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EDITOR

MANAGING EDITOR

ASSISTANT MANAGING EDITOR

Peter H. Byers, M.D.

Roberta Wilkes
University of Washington
Seattle, WA

Patricia Baskin
University of Washington
Seattle, WA

University of Washington

School of Medicine
Seattle, WA

ASSOCIATE EDITORS
Anne M. Bowcock, Ph.D.
University of Texas Southwestern
Medical Center
Dallas, TX

Mary-Claire King, Ph.D.


University of Washington
Seattle, WA

Thomas W. Glover, Ph.D.


University of Michigan
Ann Arbor, Ml

James R. Lupski, M.D., Ph.D.

Markus Grompe, M.D.


Oregon Health Sciences
University
Portland, OR
Lynn Jorde, Ph.D.
University of Utah

School of Medicine
Salt Lake City, UT

Baylor College of Medicine


Houston, TX

Roberta A.

University

Pagon, M.D.
of Washington

Seattle, WA
Barbara 1. Trask, Ph.D.
University of Washington
Seattle, WA
James L. Weber, Ph.D.

Marshfield Medical Research


Foundation

Roderick R. McInnes, M.D., Ph.D.


The Hospital for Sick Children
Toronto, Ontario

Marshfield, WI
Daniel E. Weeks, Ph.D.
University of Pittsburgh

Kenneth Morgan, Ph.D.


McGill University

The Wellcome Trust Centre for

Montreal, Quebec

Oxford

Pittsburgh, PA

Human Genetics

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Copyright by the Regents of the University of California.
The American Journal of Human Genetics (ISSN 0002-9297) is published monthly at 5720 South Woodlawn Avenue,
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Periodicals postage is paid at Chicago, IL, and at additional mailing offices. by The American Society of Human Genetics.Chicago,
All rights reserved.

Am. J. Hum. Genet. 59:i-ii, 1996

This Month in the Journal


Transmission of FMR1 CGG Repeat, by Nolin et al.

Human PAF-2 in Zellweger Syndrome, by Fukuda et


al. (p. 1210)

(p. 1252)

Trinucleotide repeat sequences of >90 triplets at the


FMR1 locus generally undergo expansion as they are
transmitted from parent to child, with mental retardation seen in the offspring. Tracts of <40 triplets expand
only rarely, if at all. In this report, Nolin et al. examine
the fate of chromosomes in the "gray zone," those with
intermediate-length tracts. They note differences in stability of the tract length, depending on the sex of both
the parent of origin and the child. In addition, the degree
of instability seems to cluster in families, which suggests
an influence of other genetic or environmental factors
on trinucleotide transmission.

Zellweger syndrome results from metabolic defects in


lipid metabolism and oxidative biochemistry, consequences of the complete absence of peroxisomes. The
biosynthesis of peroxisomes has been studied extensively
in cultured cell systems, and a large number of mutant
human and hamster cell lines are available that lack this
organelle. Tsukamoto and colleagues previously reported cloning a rat gene for peroxisome assembly factor-2 (PAF-2), which restores peroxisome function in
one of these cell lines. Now the same group reports the
cloning and localization of the human homologue of
this gene. They find two mutations in PAF-2 in patients
with the group C form of Zellweger syndrome.

CBS Mutation, by Tsai et al. (p. 1262); and Letter to


the Editor, by Sperandeo et al. (p. 1391)

COL4A5 Mutations in Alport Syndrome, by


Knebelmann et al. (p. 1221)
The glomerular basement membrane (GBM), an extracellular structure required for normal kidney function,
owes its unusual filtration properties to its distinctive
composition. Mutations in genes for the type IV collagen
chains a3(IV), a4(IV), and a5(IV) lead to Alport syndrome (progressive renal failure and hearing loss, often
associated with ocular defects) as a result of alterations
in basement membranes. Here, Knebelmann et al. have
identified 64 mutations in the COL4AS gene in a group
of individuals with X-linked Alport syndrome. In some
of these individuals, the GBM does not stain for any of
these three collagen chains, consistent with an essential
role for ac5(IV) in forming the type IV collagen network
in this structure.

The cystathionine-p-synthase gene is implicated in homocystinuria, an inborn error in methionine biosynthesis and
a risk factor for heart disease. One variant of the gene, a
68-bp-insertion allele in a coding exon, has been reported
previously in a homocystinuric individual and was presumed, on the basis of conceptual translation of the sequence, to represent a weak or null allele. In this issue of
the Journal, however, two groups argue that this allele
represents a silent polymorphism common in the unaffected
population. Tsai et al. and Sperandeo et al. argue that
the introduction of the inserted sequence creates a splice
junction that cleanly excises the added sequence from the
transcript. Tsai et al. find that homozygotes who carry the
insertion allele express the enzyme at normal levels from
an mRNA species of normal size. Sperandeo et al. show
also that an unusual pre-mRNA species that includes the
68-bp sequence is present in the nuclei of a heterozygous
individual but that it fails to accumulate in the cytoplasm.
Together, the reports suggest that two mechanisms, alternative splicing and intranuclear RNA degradation, make the
insertion allele a silent change. The findings serve as a reminder that mutations identified at the level of genomic
sequence need not be associated with overt phenotypesor even with abnormal gene expression.

Age and Origin of HNPCC Mutations, by Moisio et al.


(p. 1243)
Hereditary nonpolyposis colon cancer (HNPCC) is
linked to genes encoding DNA repair genes, MLH1,
MSH2, PMS1, and PMS2. In Finns, a modern population that originated from a much smaller group 100
generations ago, HNPCC arises from mutations only in
the MLH1 gene. Now Moisio and colleagues show that
two distinct lesions in this gene account for all known
Finnish cases, and they define highly conserved haplotypes associated with each of these mutations. The degree of linkage disequilibrium for each haplotype allows
the authors to reconstruct the history of the two disease
alleles in the Finnish population.

Heteroplasmic Point Mutations in mtDNA, by Bendall


et al. (p. 1276)

The degree of heteroplasmy in normal individuals bears


both on the details of mitochondrial transmission at
oogenesis and on questions of human evolution and divergence. Here, Bendall et al. examine the distribution
of mtDNA point mutations in a set of 180 healthy twins
and their families. Using primer-extension analysis and
sequencing of cloned fragments, they show that most of
the people studied are free of detectable heteroplasmy.

1996 by The American Society of Human Genetics. All rights reserved.


0002-9297/96/5906-0001$02.00

Am. J. Hum. Genet. 59:i-ii, 1996

families. They suggest that this disease displays anticipation, with earlier age at onset and more rapid progression
in later generations, particularly when the disease allele is
transmitted paternally. These workers also confirm the
earlier mapping of the disorder to the SCA7 locus on chromosome 3p and narrow the linkage to a region of 5 cM
contained entirely in a single 660-kb YAC clone. The fact
that this small physical region of the chromosome represents such a significant distance along a recombinational
map suggests that a hot spot for meiotic recombination
resides in or near SCA7. For a discussion of recombinational hot spots, see the editorial by Robinson (p. 1175).

Four of the twin pairs do show significant heteroplasmy,


with concordant levels of the variant sequences between
MZ twins. Because the extent of heteroplasmy varies
among the offspring of individual mothers in the study,
the authors suggest that the bottleneck that restricts mitochondrial transmission in each ovum normally falls
within a specified size range but may be quite wide in
certain instances. These results raise anew the issue of
how bottleneck size is established.
EGF Exclusion and Mapping Rieger Syndrome Locus,
by Semina et al. (p. 1288); and Closing in on the
Rieger Syndrome Gene, by Datson et al. (p. 1297)
Two papers in this issue of the Journal provide a satisfying example of a cooperative effort using complementary approaches to map a gene. Previous work had
linked Rieger syndrome, a dominant disorder of eye and
tooth development, to 4q25, in the vicinity of epidermal
growth factor (EGF), a plausible candidate gene. Now,
however, Semina and colleagues exclude this locus both
by studying the structure of EGF exons by SSCP and by
defining reciprocal translocation breakpoints in Rieger
patients. The region affected by the two breakpoints
narrows the search for the Rieger syndrome gene to - 50
kb. Similarly, Datson and colleagues, making use of the
same patients' chromosomes, develop a YAC-based,
cosmid-based contig of the candidate region. Using the
fiberFISH technique on cell lines bearing the translocations, they identify a cosmid that carries the 50-kb region with the two translocation breakpoints. At the
1996 ASHG meeting, these same groups reported the
cloning of the Reiger gene, which encodes a novel homeodomain-containing protein.
Iridogoniodysgenesis Maps to 6p25, by Mears et al.

mtDNA in Linguistic Isolates, by Stenico et al.

(p. 1363)
Stenico et al. report on mtDNA sequence diversity in
isolated populations in the Italian Alps. Among Europeans in general, mtDNA polymorphisms tend to be diverse within single populations, but variability in the
overall distribution of polymorphisms among groups is
modest. This holds true among these Alpine peoples as
well, with the two exceptions documented here. The
Mocheni, speakers of a language related to an early
Bavarian dialect, are clearly a distinct group by this measure. Speakers of Ladin, a Romance language, likewise
carry polymorphisms that are distinct from the usual
European repertoire. Ladin speakers are also unusual
in that they show little intragroup variability, whereas
speakers of Romansch, a language closely allied with
Ladin, fall within the general European pattern of
mtDNA diversity. The authors discuss their results in
light of anthropological and historical evidence on the
peopling of the Alps.

(p. 1321)

Using DSPs to Map Quantitative Traits, by Rogus and


Krolewski (p. 1376)
Sib-pair analysis, a powerful statistical tool in gene mapping, can be conducted in either of two ways. In affectedsib-pair analysis (ASP), shared haplotypes are used to
identify loci likely to be linked to the gene of interest. In
discordant-sib-pair (DSP) analysis, one uses the same data
to exclude the possibility of linkage. In this paper, Rogus
and Krolewski discuss factors that can make DSP analysis
more powerful than ASP analysis. They consider issues of
penetrance, the mode of transmission, and the possibility
of nongenetic phenocopies of the trait. The authors argue
that linkage of insulin-dependent diabetes mellitus may
be a suitable subject for DSP analysis.
JOHN ASHKENAS
Editorial Fellow

Autosomal dominant iridogoniodysgenesis anomaly


(IGDA) is an eye disorder that arises from abnormal
development of neural crest cells and leads to malformation of one or more ocular tissues. Here, Mears et al.
present linkage analysis of IGDA in two families. After
excluding a number of candidate genes and performing
a genomewide scan for linkage, they identify a locus at
6p25 that is tightly linked to the disorder. Since this
same region is affected in other disorders of eye morphogenesis, it seems likely that a gene or genes near this
locus play a critical role in neural crest growth or differentiation in the developing eye.
Refinement of the SCA7 Locus, by David et al.
(p. 1328)

David et al. report parent-of-origin effects in the transmission of an autosomal dominant cerebral ataxia in two

11

Announcements'

EMPLOYMENT OPPORTUNITY

Research Geneticist.-The Division of Medical Genetics, Department of Pediatrics, The University of Texas
Houston Health Science Center, seeks applications for
the position of research geneticist. Candidates should
demonstrate excellence in research, patient care, and
teaching. Laboratory space and initial support will be
available to the individual willing to establish an independent research program. A vigorous externally funded
program is expected. Opportunities exist within the division for collaboration with an energetic research team;
existing research programs in the institution include molecular genetics, cytogenetics, and population genetics.
Requirements for the position include an M.D. and
board certification/board eligibility in pediatrics and
clinical genetics. BC/BE in biochemical genetics is desired but not essential. Candidates will be recruited at
the assistant-/associate-professor level. Interested applicants should send letters of inquiry, including a statement of interest and curriculum vitae, to Dr. Hope
Northrup, Division of Medical Genetics, Department of
Pediatrics, University of Texas-Houston Health Science Center, 6431 Fannin Street, Houston, TX 77030;
phone (713) 792-5330, extension 3060. The University
of Texas is an Equal Opportunity Employer. Women
and minorities are encouraged to apply.
CONFERENCES

Seventh Biennial Southern African Society of Human


Genetics Congress.-To be held May 18-21, 1997, at
1. Announcements are published free of charge for members of The
American Society of Human Genetics (ASHG). Please mail announcements
to The American Journal of Human Genetics, Department of Pathology,
Box 357470, University of Washington, Seattle, WA 98195-7470, or fax
them to (206) 685-9684. Submission must be received 3 full months before
the month of issue in which publication is requested. They must be double
spaced with a 1 '/2-inch margin on all sides. The maximum length is 150
words, excluding the address for correspondence. Please include a cover
letter indicating the name of the sponsoring ASHG member.

Kwa Maritane, Pilanesberg National Park, South Africa.


The conference is hosted by the University of the Witwatersrand, Johannesburg. Congress sessions will cover
topics such as the Human Genome Project, positional
cloning, mutation detection, DNA diagnosis, genetic
counseling and prenatal diagnosis, clinical genetics, cancer genetics, FISH and cytogenetics, and population genetics. The abstract deadline is February 15, 1997. For
more information, contact Robbie Cameron, P.O. Box
3390, Parklands 2121, South Africa; phone 27 11 447
6515; fax 27 11 447 5559; E-mail: robbie.cameron@
pixie.co.za
First International Symposium on the Biology of Vertebrate Sex Determination.-To be held April 7-11,
1997, at the Outrigger Prince Kuhio Hotel in Honolulu.
This conference will cover sex determination in fish, amphibians, reptiles, birds, and mammals. Invited-speaker
topics include genetic and environmental determinants
of sex, sex-determining gene expression and hormonal
control of gene expression, X inactivation and genomic
imprinting, and SOX 9 and SRY gene expression. The
abstract dealine and early-registration deadline is January 31, 1997. For information, contact Dr. Mark Bogart, Mid-Pacific Genetics, Inc., 1010 South King Street
#201, Honolulu, HI 96814; phone (808) 591-1183;

fax (808) 593-1807; E-mail: 102634.3156@compuserve.com or Dr. Valentine Lance, Center for Reproduction of Endangered Species, Zoological Society of San
Diego, P.O. Box 551, San Diego, CA 92112; phone
(619) 557-3944; fax (619) 557-3959; E-mail: lvalenti@
sunstroke.sdsu.edu
COURSE

Course in Genetic Analysis Methods for Medical Researchers.-To be held May 4-7, 1997, at the R. David
Thomas Center, Duke University, Durham, NC. This
intensive 4-day course centers on mapping human genetic diseases, with emphasis on the mapping of com-

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plex/common disease phenotypes. The curriculum covers the entire disease-mapping process: developing and
integrating clinical classification, pedigree collection,
statistical genetics, and molecular analysis. The course
emphasizes the global decision-making process and
overall study design. The deadline for applications is
February 1, 1997. For information, write to Dr. Margaret A. Pericak-Vance, Box 2900, Duke University Medical Center, Durham, NC 27710-0001, or contact Ms.
Valorie Roberts, Course Administrator, phone (919)
684-6274.
MUTANT-CELL REPOsrrORY CATALOG
NIGMS Human Genetic Mutant Cell Repository WWW
Catalog.-To provide investigators with access to the
most up-to-date information and complete listings of
cell cultures and DNA samples, a World Wide Web

Announcements

version of the NIGMS Human Genetic Mutant Cell Repository catalog is now available (http://arginine
.umdnj.edu/coriell/nigms.htm). The repository has human cell cultures available in the following categories:
inherited metabolic disorders, biochemically mutant cell
cultures with characterized mutations, well-characterized chromosomally aberrant cell cultures, CEPH reference families, a human-diversity collection, and human/
rodent somatic-cell hybrid mapping panels. Menus are
provided to allow users to search for cell cultures or
DNA samples in a variety of ways, including repository
number, MIM number, disease description, and chromosome abnormality and number. Chromosome ideograms are provided for human/rodent somatic-cell hybrids. Questions about the catalog should be directed
to Coriell Cell Repositories, Coriell Institute for Medical
Research, 401 Haddon Avenue, Camden, NJ 08103;
phone (800) 752-3805 in the United States, (609) 7574848 from other countries; fax (609) 757-9737; E-mail:
ccr@arginine.umdnj.edu

American Board of Medical Genetics Diplomates


The American Board of Medical Genetics is pleased to announce the diplomates certified in 1996.

Clinical Geneticists (123)


Amalfitano, Andrea
Angle, Brad
Artigas-Lopez, Mercedes
Baggot, Patrick J.
Bellus, Gary A.
Bernhard, Lisa M.
Bhatt, Sucheta D.
Braverman, Nancy E.
Calikoglu, Muge G.
Charlton, Philippa A.
Chueh, Jane T.
Cohn, Gabriel M.
Cox, Gerald F.
Cronin, John E.
Decker-Phillips, Martha L.
Descartes, Maria

Dinulos, Mary Beth P.


Diukman, Rony
Domek, David B.
Dugoff, Lorraine
Echiverri, Susan
Esters, Danielle Blake
Fisher, Allan J.
Friedman, Barbara D.
Geer, Joseph S., Jr.
Ginsburg, David
Glass, Ian A.
Gottesman, Gary S.
Greally, John M.
Gregg, Anthony R.
Gross, Susan J.
Ho, Nicola C. Y.
Hopkin, Robert J.
Horwitz, Marshall S.
Hume, Roderick F., Jr.
Huq, A. H. M. M.
Jayakar, Parul Bhagwati
Johnson, Mark D.
Jones, Carolyn H.
Jonsson, Jon J.
Kanis, Adam B.
Keppler-Noreuil, Kim M.
Kimonis, Virginia E.
Kirshman, Rosita
Kishnani, Priya Sunil
Kochanek, Stefan
Koeberl, Dwight D.
Kosaki, Kenjiro
Krakow, Deborah
Krantz, Ian D.
Kronn, David F.

Leduc, Xuanto Nguyen


Leonard, Norma Jean
Leslie, Nancy D.
Levy-Lahad, Ephrat
Longo, Nicola
MacDonald, Madeleine R.
Macri, Charles J.
Maher, Joseph F.
Manea, Susan R.
Marazzo, Donald P.
Marble, Michael R.
Martin, Kimberly A.
McLean, Lynn K.
Menasse-Palmer, Lisa
Mortier, Geert R.
Mulla, Wadia R.
Netzloff, Michael
Neufeld, Ellis J.
Nowak, Catherine B.
Orr-Urtreger, Avi
Pappas, John G.
Pearson, Margaret A.
Pellegrino, Joan E.
Peoples, Risa J.
Perez Jurado, Luis
Porter, Forbes D.
Potocki, Lorraine
Powell, Berkley R.
Prasad, Chitra
Pridjian, Gabriella
Przylepa, Kelly A.
Quackenbush, Elizabeth J.
Raff, Michael L.
Rahbeeni, Zuhair
Rasmussen, Sonja A.
Reish, Orit Soffer
Reitnauer, Pamela J.
Roberts, Helen E.
Robin, Nathaniel H.
Roeder, Elizabeth R.
Rossiter, Judith Pratt
Rubinstein, Wendy S.
Salbert, Bonnie Anne

Schanen, N. Carolyn
Schimmenti, Lisa A.
Schmidt, Karen R.
Shashi, Vandana
Sheikh, Asad U.
Spiro, Rhona P.
Stone, Deborah L.
Stratakis, Constantine A.
Sutphen, Rebecca

Sweetser, David A.
Tezcan, Kamer
Theda, Christiane
Theodoropoulos, Demetrios
Thomas, Janet A.
Thompson, Katherine Hegmann
Torres-Martinez, Wilfredo
Towner, Dena R.
Tse, William T.
Van Den Veyver, Ignatia
Velsher, Lea
Wahl, Matthew I.
Wallerstein, Robert J.
Watson, Kathryn R.
Weaver, Christine A.
Weinreb, Ari
Weitzel, Jeffrey N.
Whelan, Alison J.
Williams, Marc S.
Yano, Shoji
Clinical Biochemical Geneticists (22)
Almashanu, Shlomo
Braverman, Nancy E.
Cox, Gerald F.
Dougherty, Frances E.
Gibson, James B.
Huang, William Y.
Kimonis, Virginia E.
Kishnani, Priya Sunil
Leslie, Nancy D.
Levy, Paul A.
Marsden, Deborah Louise
McDowell, Geraldine A.
Prasad, Chitra
Prence, Elizabeth M.
Rahbeeni, Zuhair
Roessler, Erich
Sweetser, David A.
Thomas. Janet A.
Wilcox, William R.
Wong, Lee-Jun C.
Yano, Shoji
Zinn, Arthur B.

Clinical Cytogeneticists (66)


Bacino, Carlos A.
Brock, Jo-Ann K.
Christian, Susan L.
Cotter, Philip D.
Cronin, John E.
Curtis, Christine A.
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Dinulos, Mary Beth P.


Doheny, Kimberly F.
Dowling, Patricia K.
Dupont, Barbara R.
Elsobky, Ezzat S.
Fan, Yao-Shan
Fink, James M.
Flejter, Wendy L.
Gagos, Sarantis
Goodman, Barbara K.
Gopal Rao, V. N. Velagaleti
Habibian, Rezvan S.
Harrison, Kathleen J.
Hauge, Xueya
Heard, Nancy L.
Huang, Bing
Jones, Carolyn H.
Joseph, Pushpa A.
Kaiser-Rogers, Kathleen
Krantz, Ian D.
Kulharya, Anita S.
Leana-Cox, Julie
Li, Marilyn Mengrong
Li, Shibo
Li, Xu
Lu, Guohui

Maiwald, Robert
Mathew, Susan
McMilin, Kenneth D.
Micale, Mark A.
Miron, Patricia M.

Mowery-Rushton, Patricia
Mulla, Wadia R.
Murata-Collins, Joyce L.
Nemana, Lakshmi J.
Opheim, Kent E.
Pellegrino, Joan E.
Persons, Diane L.
Qin, Naigeng
Ravnan, Julie Britt

Stephenson, Christine F.
Sun, Guoxian
Sutcliffe, Maxine J.
Sutphen, Rebecca
Tepperberg, James H.
Thompson, Katherine Hegmann
Torchia, Beth S.
Vundavalli, Murty V. V. S.
Wachtel, Mitchell S.
Wallerstein, Robert J.
Watson, Jan D.
Wenger, Gail D.

ABMG Diplomates

Wilke, Charles M.
Wolff, Daynna J.
Worsham, Maria J.
Wu, Shi-Qi
Xu, Jia

Yelavarthi, Krishna K.
Zaslav, Ann-Leslie
Zheng, Yun-Ling
Clinical Molecular Geneticists (82)
Alford, Raye L.
Almashanu, Shlomo
Anguiano, Arturo
Bacino, Carlos A.
Caggana, Michele
Carpenter, Nancy J.
Casey, Brett M.
Chan, Sai-On
Chen, Bin
Chibbar, Rajni
Cotter, Philip D.
Cox, Gerald F.
Das, Soma
Doheny, Kimberly F.
Ellison, Jay W.
Elsas, Louis J.
Fridovich-Keil, Judith L.
Gibson, Jane S.
Gold, Albert Mark
Goodman, Barbara K.
Gray, Mark R.
Haag, Mary M.
Hajianpour, Atieh K.
Hallam, Stephanie E.
Halling, Kevin C.
Han, Jian
Heim, Ruth A.
Johnson, Dennis R.
Jonsson, Jon J.
Kambouris, Marios
Klein, Karen A.
Knoll, Joan Helen
Leana-Cox, Julie
Levy-Lahad, Ephrat
Li, Marilyn Mengrong
Li, Shibo
Li, Xu
Lindor, Noralane M.
Lindpaintner, Klaus
Luce, Michael C.
Lyon, Elaine
Madan, Suneeta
Maiwald, Robert

McGinniss, Matthew J.
Micale, Mark A.
Michaelis, Ron C.
Miron, Patricia M.
Moore, Deborah K.

Muralidharan, Kasinathan
Naeem, Rizwan C.
Nunes, Mark E.

Oddoux, Carole
Penny, Laura A.
Perez Jurado, Luis

Phillips, Charlotte L.
Pratt, Victoria M.
Prezant, Toni R.

Quan, Franklin
Rabin, Mark B.
Ravnan, Julie Britt
Reddy, Kavita S.
Roa, Benjamin B.

Rubinstein, Wendy S.
Sasi, Ramakrishna
Schaefer, Frederick Vail
Schlesinger, Sudha R.
Selig, H. Sarah
Silverman, Lawrence M.
Spector, Elaine B.
Stephens, Karen G
Stolle, Catherine A.
Strasberg, Paula M.
Sutcliffe, Maxine J.
Sutphen, Rebecca
Tantravahi, Umadevi
Wang, Zhenyuan
Wick, Myra J.
Wilcox, William R.
Wolff, Daynna J.
Wong, Lee-Jun C.
Worsham, Maria J.
Xin, Winnie W.
Zhou, Zhaoqing
Ph.D. Medical Geneticists (11)
Burns, Jacqueline
Hallam, Stephanie E.
Kambouris, Marios
Kammermeyer, Kara Lynn
Klein, Karen A.
Korczak, Jeannette F.
Mascari, Maria J.
McClellan, Julie
Palmer, Christina G.
Pratt, Victoria M.
Speer, Marcy C.

Editorial Reviewers for 1996


The editorial staff of The American Journal of Human Genetics would like to thank the following scientists for
their invaluable assistance in reviewing manuscripts from July 1, 1995, through June 30, 1996.
Abe, Koji
Adams, Michael
Ainsworth, Peter
Albertini, Richard J.
Allingham-Hawkins, Diane J.
Alper, Chester
Amos, Christopher I.
Anderson, V. Elving
Andrade, Mariza
Antonarakis, Stylianos E.
Aoyama, Toshifumi
Armour, John
Ash, David E.
Asherson, Philip
Ashizawa, Tetsuo
Aston, Christopher E.
Aubourg, Patrick

Babron, Marie-Claude
Baden, Howard P.
Badner, Judith A.
Baldwin, Clinton T.
Bamshad, Michael
Barbujani, Guido
Barchi, R. L.
Barker, David F.
Barsh, Gregory S.
Bassett, Anne S.
Bateman, John F.
Beaty, Terri H.
Beauchamp, Gary
Beaudet, Arthur L.
Beckmann, Jacques S.
Beermann, Friedrich
Beggs, Alan H.
Bell, John I.
Belmont, John W.
Bennett, Robin L.
Benz, Edward J. Jr.
Bernhardt, Barbara A.
Betty, David J.
Beutler, Ernest
Bianchi, Nestor 0.
Bias, Wilma B.
Bichet, Daniel
Biesecker, Barbara Bowles
Biesecker, Leslie G.
Bird, Thomas D.
Blom, Henk J.

Bobrow, Martin
Boehnke, Michael
Boerwinkle, Eric
Bonaiti-Pellie, Catherine
Borecki, Ingrid B.
Bosma, P. J.

Bouchard, Claude
Boughman, Joann A.
Boulikas, Teni
Bowcock, Anne
Bowden, Donald W.
Boyd, N. F.
Brentnall, Terry
Breslow, Jan L.
Breuning, M. H.
Brice, Alexis

Brinkmann, Albert
Brinkmann, B.
Brock, David J. H.
Brody, Larry C.
Brown, Carolyn J.
Brown, Michael D.
Brown, W. Ted
Brunner, Han G.

Brunzell, John
Bryndorf, Thue
Brzustowicz, Linda M.
Budarf, Marcia
Bull, Shelley B.
Bulman, Dennis
Burchell, Brian
Burgeson, Robert E.
Burghes, Arthur H. M.
Burke, Wylie
Burns, Trudy
Butler, Merlin G.
Butow, Ronald A.
Buys, Charles H. C. M.
Byerley, William

Cassiman, Jean-Jacques
Cederbaum, Stephen D.
Chakravarti, Aravinda
Chamberlain, Jeffrey S.
Chamberlin, Margaret
Chance, Phillip F.
Chapman, Marguerite
Chen, Yuan-Tsong
Chenevix-Trench, Georgia
Chinault, A. Craig
Chomyn, Anne
Chuang, David T.
Clarke, Lorne A.
Claus, Elizabeth B.
Claustres, Mireille
Clayton, David A.
Clayton, Ellen Wright
Clegg, John B.

Clerget-Darpoux, Franqoise

Coates, Paul M.
Codori, Ann-Marie
Cohn, Daniel H.
Collinge, John
Collins, Francis
Concannon, Patrick
Conneally, P. Michael
Cooper, David N.
Corder, Elizabeth H.
Cortopassi, Gino
Cottingham, Robert W. Jr.
Cotton, Richard G. H.
Cowan, Tina
Cox, Nancy J.
Craddock, Nick
Craig, Ian W.
Crow, James F.
Crowe, Raymond R.
Cupples, L. Adrienne
Curb, J. David
Curry, Cynthia J. R.
Curtis, David
Cutting, Garry R.

Callahan, John W.
Cann, Rebecca L.
Cannings, C.
Cantor, Rita M.

Dallapiccola, Bruno

Cao, Antonio
Cardon, Lon
Carmelli, Dorit
Cartron, J-P
Cassidy, Suzanne B.

Danner, Dean J.
Davies, Kay E.
D'Azza, Alessandra
Deeb, Samir
Deka, Ranjan
1411

1412

de la Chapelle, Albert
Delgado-Escueta, Antonio V.
Demenais, Florence M.
De Paepe, Anne
Detera-Wadleigh, Sevilla D.
Devilee, Peter
Devlin, Bernie
Dewald, Gordon W.
Dickerman, Lois
Diehl, Scott R.
Dietz, Harry
DiMauro, Salvatore
DiRienzo, Anna
Disteche, Christine
Dobyns, William B.
Donlon, Timothy A.
Donnai, Dian
Donohoue, Patricia
Driscoll, Deborah A.
Duffy, David L.

Easteal, Simon
Easton, Douglas
Ebers, George C.
Eggerding, Faye A.
Ehm, Margaret G.
Eisensmith, Randy C.
Ellis, Nathan A.
Elsas, Louis J.
Engvall, Eva
Epstein, Ervin H.
Epstein, Neil D.
Erbe, Richard W.
Estivill, Xavier
Estop, Anna M.
Evett, Ian W.
Ewens, Warren J.
Excoffier, Laurent

Falk, Catherine
Farndon, Peter Anthony
Farrall, Martin
Farrell, Donald F.
Farrer, Lindsay A.
Feingold, Eleanor
Feldman, Gerald L.
Fenton, Wayne A.
Ferrell, Robert E.
Field, L. Leigh
Fisch, Gene S.
Fischer-Lindahl, Kirsten
Fishel, Richard
Flejter, Wendy L.
Fluharty, Arvan L.
Fodde, Riccardo

Editorial Reviewers for 1996

Folstein, Susan
Fontaine, Bertrand
Ford, Deborah
Foruod, Tatiana
Fost, Norman
Francke, Uta
Francomano, Clair A.
Frazier, Marsha L.
Freimer, Nelson B.
Freund, Carol
Friedman, Jan M.
Friend, Stephen
Fujimoto, Atsuko
Fukuda, Michiko N.
Fulker, David W.

Gahl, William
Gal, Andreas
Gallie, Brenda L.
Gambetti, Pierluigi
Gardiner, R. M.
Gardner, R. J. McKinlay
Gartler, Stanley
Gatti, Richard A.
Gelernter, Joel
Gelinas, Richard
Geller, Gail
Geraghty, Daniel E.
German, James
Germino, Gregory G.
Gewert, D. R.
Geyer, Charles
Gibbs, Richard A.
Gibson, Kenneth M.
Gilbert, Fred
Gill, Michael
Gill, Thomas J., III
Ginns, Edward I.
Gjertson, David W.
Glaser, Thomas
Glover, Thomas W.
Go, Rodney C. P.
Godwin, Andrew
Goldgar, David
Goldin, Lynn R.
Goldman, David
Gonzalez, Frank J.
Goodfellow, Paul J.
Goodfellow, Peter N.
Goodman, Stephen I.

Goodship, Judith
Goossens, Michel
Gorin, Michael B.
Goto, Yu-ichi
Grabowski, Gregory A.

Greenberg, Cheryl R.
Grody, Wayne W.
Grompe, Markus
Gros, Philippe
Gurling, Hugh
Guttler, Flemming
Hagerman, Randi
Haines, Jonathan L.
Hall, Margaret
Halley, D. J. J.
Hammer, Michael

Hamosh, Ada
Hampton, Garret
Hanawalt, Philip C.
Handyside, Alan H.
Hansen, John A.
Harpending, Henry
Harris, Peter C.
Harrod, Mary Jo

Haskins, Mark
Hassold, Terry J.
Hasstedt, Sandra J.
Hastbacka, Johanne
Hauser, Stephen
Hecht, Jacqueline T.
Hedrick, Philip W.
Heim, Ruth
Hejtmancik, J. Fielding
Hendriks, R. W.
Hennekam, Raoul C. M.
Herron, G. Scott
Hewitt, Jane E.
Hill, Shirley Y.
Hill, William G.
Hillner, Bruce
Hirano, Michio
Hirst, Mark
Hobbs, Helen H.
Hodes, M. E.
Hodge, Susan E.

Hoehn, Holger
Hoffman, Eric
Hogan, Kirk
Holmans, Peter
Holmes, Lewis B.
Holmquist, Gerald P.
Hook, Ernest B.
Hopper, John L.
Hopwood, John J.
Horai, Satoshi
Horn, Nina
Horowitz, Jon

Horsthemke, Bernhard
Horton, William A.

1413

Editorial Reviewers for 1996

Horwich, Arthur L.
Housman, David
Hovnanian, Alain
Howell, Neil
Hudson, Arthur
Huether, Carl A.
Hughes, Austin L.
Humphries, Peter
Hunt, Steven C.
Hunter, Alasdair G. W.
Hurwitz, Jerard
Jabs, Ethylin Wang
Jackson, Ian
Jacobs, Patricia A.
Jarvik, Gail
Jazwinska, Elizabeth C.
Jenkins, Trefor
Johns, Donald R.
Johnson, Keith J.
Jorde, Lynn B.
Jouet, Monique
Julier, Cecile

Kaback, Michael M.
Kahn, Ronald C.
Kalow, Werner
Kamboh, M. Ilyas
Kang, Soo-Sang
Kaplan, Feige
Kaplan, Norman
Kay, Mark
Kazazian, Haig H.
Kendler, Kenneth S.
Kennedy, James L.
Kerem, Batsheva

Kimberling, William J.
King, Mary-Claire
King, Richard A.
Klinger, Katherine W.
Klintworth, G. K.
Klitz, William
Kluijtmans, Leo A. J.
Knapp, Michael
Knight, Samantha J. L.
Knoll, Joan H. M.
Knowlton, Robert G.
Koeller, David M.
Kolodner, Richard D.
Kolodny, Edwin H.
Korf, Bruce
Korneluk, Robert G.
Kraemer, Kenneth
Kruglyak, Leonid
Kurth, Janice H.

Kushner, James
Laird, Charles
Lalouel, Jean-Marc
Lalwani, Anil K.
Lamb, Allen N.
Lander, Eric S.
Lange, Kenneth
Lannfelt, Lars
Larsson, Nils-Goran
La Spada, Albert R.
Lathrop, G. Mark
Laxova, Renata
Lazarow, Paul B.
Ledbetter, David H.
Ledley, Fred D.
Lee, Brendan
Lefranc, Marie-Paule
Leitersdorf, Eran
Lerner, Terry Jane
Levy-Lahad, Efrat
Lewin, Harris
Lewis, Richard A.
Lewontin, Richard C.
Liber, Howard
Liebhaber, Steve
Lillicrap, David
Lin, Shili
Litt, Michael
Loeb, Lawrence A.
Long, Jeffrey C.
Longo, Nicola
Lublin, Douglas M.
Lupski, James R.
Lusis, Aldon J.
Lynch, Eric
Lynch, Henry T.
Lyonnet, Stanislas

MacCluer, Jean W.
MacDonald, Marcy
MacKenzie, Alexander E.
Mackey, David
MacLaren, Noel
MacLean, Charles J.
Macleod, Patrick
Mahley, Robert W.
Malcolm, Susan
Maquat, Lynne E.
Marazita, Mary
Margolis, Russell L.
Martin, Nicholas G.
Martin, Renee H.
Martinez, Fernando
Martinez, Maria

Mathew, Christopher
Matise, Tara Cox
Matsuda, Ichiro
McCabe, Linda
McDermid, Heather E.
McDevitt, Hugh
McElreavey, Kenneth
McEwen, Jean
McFarland, Henri F.
McInnes, Roderick R.
McInnis, Melvin
McIntosh, Iain
McMahon, Francis J.
McPeek, Mary Sara
McPherson, John D.
Mehlman, Maxwell J.
Meitinger, T.
Melancon, Serge B.
Melki, Judith
Melnick, Michael
Melton, Terry
Mercer, Julian
Merriwether, D. Andrew
Meyer, Joanne M.
Meyer, Urs
Meyers, Deborah A.
Meyn, M. Stephen
Migeon, Barbara
Miller, Orlando J.
Miller, Walter L.
Milner, Eric
Minnich, Anne
Mohandas, Narla
Monaco, Anthony P.
Monnat, Raymond J.
Moraes, Carlos T.
Morgan, Kenneth
Morris, Colleen A.
Morton, Cynthia C.
Morton, Newton E.
Moser, Hugo W.
Moses, Robb E.
Motulsky, Arno
Mountain, Joanna L.
Mudd, S. Harvey
Muenke, Maximilian
Mulley, John C.
Mulvihill, John J.
Munnich, Arnold
Murray, Jeffrey C.
Myers, Jeanne C.

Nakamura, Yusuke
Nance, Martha
Nance, Walter E.

1414

Narod, Steve
Nathans, Jeremy
Neale, Michael C.
Nebert, Dan
Nelson, David
Nelson, J. Lee
Nemath, Andrea
Nepom, Barbara
Nepom, Gerald
Neufeld, Elizabeth F.
Neuman, Rosalind
Newman, Beth
Nickerson, Deborah
Northrup, Hope
Nothen, Markus M.
O'Brien, Stephen J.
O'Brien, William E.
O'Dowd, Brian
Olson, Jane M.
Omenn, Gilbert S.
Omiecinski, Curtis
Oriol, Rafael
O'Rourke, Dennis H.
Orr, Harry T.
Ostrander, Elaine A.
Ostrer, Harry
Overhauser, Joan
Owen, Michael J.
Owerbach, David

Paabo, Svante
Page, David C.
Pagon, Roberta A.
Palmer, Catherine G.
Parham, Peter
Parsons, Ramon
Passarge, Eberhard

Patel, Mulchand
Patel, Pragna I.
Patterson, David
Pauli, Richard M.
Pauls, David L.
Payami, Haydeh
Peltonen, Leena
Pennington, Bruce
Pericak-Vance, Margaret
Pestka, Sidney
Petersen, Michael B.
Petersen, Robert B.
Petit, Christine
Petronis, Arturas
Petty, Elizabeth M.
Peyser, Patricia
Pinnell, Sheldon R.

Editorial Reviewers for 1996

Piussan, Charles
Poll-The, Bwee Tien
Ponder, Bruce A. J.
Popovich, Bradley
Poulton, Joanna
Povey, Sue
Price, R. Arlen
Proia, Richard L.
Puck, Jennifer

Quaid, Kimberly A.
Ramirez, Francesco
Ranum, Laura P. W.

Raskind, Wendy
Rasmussen, Sonja A.
Ray, Peter N.
Raymond, Vincent

Rebbeck, Timothy
Redston, Mark
Reichardt, Juergen K. V.
Reilly, Philip R.
Reiss, Allan L.
Rhead, William J.
Riccardi, Vincent M.
Rice, Treva Kay
Rich, Stephen S.
Richards, Julia E.
Risch, Neil J.
Roa, Benjamin B.
Robbins, Paul D.

Robbins, Wendie A.
Roberts, Derek F.
Robinson, Brian H.
Robinson, Wendy P.
Roeder, Kathryn
Rogers, Alan R.
Rommens, Johanna
Rosen, Fred S.
Rosenblatt, David S.
Ross, Christopher
Rotter, Jerome I.
Rouleau, Guy A.
Rousseau, Francois
Rowe, David
Rowley, Janet
Rowley, Peter T.
Rozen, Rima

Rucknagel, Donald L.
Russell, David W.

Sadovnick, A. Dessa
Saiki, Randall K.
St. George-Hyslop, P. H.
Sandberg, Avery A.

Sandford, Richard
Santachiara-Benerecetti, A. S.
Sapienza, Carmen
Sassa, Shigeru
Savontaus, Marja-Liisa
Scambler, Peter J.
Schaid, Dan
Schapira, A. H. V.
Scheuner, Maren
Schinzel, Albert
Schlessinger, David
Schneider, Peter
Schnur, Rhonda
Schofield, Peter R.
Schon, Eric A.
Schork, Nicholas J.
Schurr, Erwin
Schwartz, Stuart
Scriver, Charles
Segal, Stanton
Seidman, Christine
Shaffer, Lisa G.
Sham, Pak
Shanske, Sara
She, Jin-Xiong
Sheffield, Val
Sherrington, Robin
Shiang, Rita
Shields, Gerald F.
Shih, Vivian E.
Shiloh, Yosef

Shoffner, John
Shoubridge, Eric
Siegmund, David
Silverman, Gary A.
Simard, Louise
Sims, Katherine B.
Sinclair, Andrew H.
Sing, Charles F.
Singer, Michael
Sistonen, Pertti
Skandalis, Adonis
Skolnik, Mark H.
Sly, William S.
Smalley, Susan L.

Smith, Shelley
Smulson, Mark
Snell, Russell G.
Sokal, Robert R.
Somlo, Stefan
Sommer, Steve S.
Soodyall, Himla
Sorbi, Sandro
Sorenson, James
Soreq, Hermona

1415

Editorial Reviewers for 1996

Sparkes, Robert
Speed, Terry
Speer, Marcy C.
Spence, M. Anne
Spielman, Richard
Spotila, Loretta C.
Spritz, Richard
Spurr, Nigel
Steck, Peter A.
Steel, Karen
Stephens, Karen
Stevanin, Giovanni
Stoll, Claude
Stoneking, Mark
Strong, Louise C.
Struewing, Jeffery P.
Suarez, Brian K.
Sutherland, Grant R.
Suzuki, Kunihiko
Sweetman, Lawrence A.
Swift, Michael
Swisshelm, Karen
Sybert, Virginia P.
Sykes, Bryan C.
Szathmary, Emoke J. E.

Tanaka, Kay
Tanzi, Rudolph E.
Taschner, Peter E. M.
Taylor, John M.
Taylor, Palmer
Taylor, Simeon
Terwilliger, Joseph D.
Thibodeau, Stephen N.
Thoene, Jess G.
Thomas, Alun
Thomas, George H.
Thompson, Arthur R.
Thompson, Elizabeth
Thomson, Glenys J.

Tiller, George E.
Todd, John
Todorov, Alexandre A.
Torroni, Antonio
Trembath, Richard C.
Tremblay, Marc
Triggs-Raine, Barbara
Tryggvason, Karl
Tsipouras, Petros
Tsui, Lap-Chee
Tsuji, Shoji
Tuddenham, Edward G. D.
Turker, Mitchell
Turner, Gillian

Undlien, Dag E.
Utermann, Gerd
Van Broeckhoven, Christine
Van Dyke, Daniel
van Ommen, Gert J. B.
van Oost, Bernard A.
Vieland, Veronica J.

Weir, Bruce S.
Weiss, Kenneth M.
Welsh, Elizabeth
Wenger, David A.
Wenstrup, Richard J.
West, David
Whitley, Chester B.
Whyte, Michael P.
Wiggs, Janey L.
Wijsman, Ellen M.
Wilcox, William
Wilfond, Benjamin
Wilkie, Andrew 0. M.
Willard, Huntington F.
Willems, Patrick J.
Williams, Charles A.
Wilson, James M.
Winter, Robin M.
Wordsworth, Paul
Worton, Ronald G.
Wright, Alan F.

Vikkula, Mikka
Viskochil, David H.
Vita, Gary M.
Vogelstein, Bert
Volanakis, John E.

Yang-Feng, Teresa
Yaouanq, Jacqueline
Yates, John R. W.
Yoshida, Akira
Young, Anne B.
Youssoufian, Hagop
Yu, C. Yung

Wallis, Gillian A.
Wanders, Ronald J. A.
Warburton, Dorothy
Ward, Patrick J.
Warman, Matthew
Warren, Stephen T.
Weber, Barbara L.
Weber, James L.
Weedn, Victor
Weeks, Daniel E.
Wegner, Rolf-Dieter

Zachary, Andrea A.
Zackai, Elaine H.
Zdzienicka, Malgorzata Z.
Zerres, Klaus
Zhang, Chunfang
Zhao, Lue Ping
Zheng, Chang-Jiang
Zimran, Ari
Zlotogora, Joel
Zonana, Jonathan

Author Index for Volume 59


(ASHG) = American Society of Human Genetics statement; (BR) = book review; (E) = editorial; (L) = letter; (R)
- review article

Aaltonen, J., 879


Abbas, N., 1328
Abbott, M. H., 16
Abbruzzese, M., 739 (L)
Abel, L., 453
Abruzzo, M. A., 1108
Adams, C., 676
Adkins, W., 146
Agid, Y., 1328
Aita, V., 152
Ajmar, F., 739 (L)
Ala-Kokko, L., 1097
Albin, R., 140
Alderson, K., 392
Alfinito, F., 887
Allen, A., 487 (L)
Al-Maghtheh, M., 864
Almqvist, E., 16
Aloya, M., 95
Altay, C., 377
Aman, R., 437
American Society of Human
Genetics, The, 471 (ASHG)
Amos, C. I., 676, 743 (L)
Andermann, A. A., 331
Andersen, T. I., 486 (L)
Anderson, B., 487 (L)
Andreassen, R., 360
Andrews, L., 487 (L)
Andria, G., 262 (L), 1391 (L)
Anikster, Y., 1012
Antignac, C., 1221
Antonarakis, S. E., 66, 1395 (L)
Arnheim, N., 772, 896, 1186
Arranz, M. J., 855
Arrondel, C., 1221
Arzimanoglou, I. I., 271 (L)
Ashkenas, J., 756 (E), 1404 (BR)
Ashley, A. E., 1252
Atif, U., 23
Attardi, G., 772
Auerbach, A. D., 377
Auerbach, S. A., 664
Auloge, L., 625

Backe, J., 962 (L)


Badr, F. M., 741 (L)
Baker, J. R., 1276
Baldini, A., 23
1416

Bale, A. E., 417


Ballabio, A., 1019
Bandelt, H.-J., 185, 935
Bang, J., 918
Bapat, B., 736 (L)
Barber, J., 1193
Barboni, P., 248 (L)
Barbujani, G., 1363
Barlati, S., 292
Barrat, F. J., 625
Barrett, T. G., 855
Bassett, A. S., 905
Battistini, S., 1233
Bauer, K., 437
Beck, M., 1202
Beckman, L., 570
Beckmann, J. S., 1400 (L)
Beckwith, J., 487 (L)
Beighton, P., 146
Bell, D. A., 128
Bell, G. I., 1288
Belletti, L., 292
Bellone, E., 739 (L)
Bendall, K. E., 1276
Benlian, P., 431
Bennett, R. L., 1403 (BR)
Ben Othmane, K., 258 (L), 1040
Ben-Zeev, B., 1012
Ben-Zion, G., 879
Bernard, L., 431
Bernasconi, F., 1114
Bernatowska-Matuszkiewicz, E.,
40
Bernini, L. F., 927
Bertini, E., 135
Bertorelle, G., 1363
Bettinelli, A., 1019
Bhattacharya, S., 864
Biancalana, V., 16, 847
Bianchetti, M., 1019
Biasotto, M., 308
Biery, B. J., 1006
Bignell, M., 1262
Bingham, E., 152
Bitoun, P., 1288
Bjorses, P., 879
Blangero, J., 694
Bleeker-Wagemakers, E. M.,
481 (L)

Boehm, C. D., 234


Boehnke, M., 717, 946
Boghosian-Sell, L., 999
Boles, R. G., 146
Bolesta, M., 529
Bolhuis, P. A., 481 (L)
Bonatto, S. L., 253 (L)
Bonilla, E., 591
Bonnemann, C. G., 1040
Bonnet, D., 958 (L), 1337
Boon, L., 146
B0rresen, A.-L., 486 (L)
Botstein, D., 377
Bouix, J.-C., 847
Bowen, T., 912
Bowman, J., 487 (L)
Bowman, S. J., 226
Boyd, C. D., 958 (L)
Bradburn, J. M., 331
Brahe, C., 834
Brai, M., 308
Brega, A., 964 (L)
Breillat, C., 1221
Breukel, C., 1193
Brice, A., 1328
Brock, D. J. H., 1165 (L)
Brohm, M., 962 (L)
Bronte-Stewart, J., 481 (L)
Brook, J. D., 1337
Brown, J., 684
Brown, W. T., 478 (L), 1252
Broyer, M., 1221
Brunner, H. G., 146
Bruns, G., 152
Bryndorf, T., 918
Buckler, A. J., 1337
Bullman, H., 1193
Bundey, S., 855
Bunge, S., 1202
Bunyan, D., 1193
Burger, J., 620
Burn, J., 1193
Buxbaum, J. D., 644
Buys, C. H. C. M., 834
Byerley, W. F., 731 (L)
Byers, B., 268 (L), 1397 (L)
Byrd, P. J., 320

Caffier, H., 962 (L)

1417

Author Index for Volume 59

Calabrese, G., 1393 (L)


Calafell, F., 1363
Caldwell, P., 234
Calzone, K., 547
Campanella, G., 554
Cann, R. L., 256 (L)
Cant, A. J., 625
Capitanio, M., 1363
Capua, A., 793
Cardno, A., 912
Carelli, M. P., 918
Carelli, V., 248 (L)
Carey, J. C., 1288
Carmi, R., 385
Carritt, B., 1066
Casari, G., 1019
Cassidy, S. B., 1170 (L)
Cassiman, J.-J., 16
Castellotti, B., 475 (L)
Cavalcanti, F., 554
Cawthon, R., 159
Celep, F., 1114
Chabas, A., 1048
Chadwick, D., 653
Chahrokh-Zadeh, S., 1168 (L)
Chakraborty, R., 109
Chakravarti, A., 66
Chalmers, R. M., 103
Chan, C., 481 (L)
Chang, F. M., 644
Chartrand, C., 519
Chauvin, A., 847
Chen, C.-J., 128
Chen, H., 66
Chen, H. S., 519
Chen, K., 547
Chen, X., 591
Chen, Y., 825
Chen, Z.-Y., 1074
Chiamprasert, S., 128
Chinault, A. C., 407
Chiumello, G., 879
Chomyn, A., 772
Chotai, K., 16
Chretien, N., 331
Christensen, B., 918, 1268
Christensen, E., 1012
Christiano, A., 1097
Chui, H., 664
Chung, W. K., 694
Clarke, J. T. R., 95
Claudio, J. 0., 331
Clayton, E. W., 1169 (L)
Clegg, D. O., 676
Clerget-Darpoux, F., 1149

Clericuzio, C. L., 1027


Clow, C., 793
Cobben, J. M., 834
Cocozza, S., 554
Cohen, D. J., 644
Cohen, J., 176
Cohen, J. S., 613
Cole, D. E. C., 633
Coles, R., 16
Collier, D. A., 855
Colombi, M., 292
Colussi, G., 1019
Comings, D. E., 999
Concannon, P., 40, 839
Connarty, M., 16
Considine, E., 1097
Cook, M., 1134
Cook-Deegan, R., 487 (L)
Coon, H., 731 (L)
Corey, D., 1074
Corrain, C., 1363
Corte-Real, H., 185
Cortopassi, G., 772
Corwin, L., 119
Cote, G. J., 510
Cotton, R. G. H., 289 (E)
Couch, F. J., 547
Coullin, P., 1328
Coutinho, P., 119
Cox, D., 487 (L)
Cox, D. R., 717
Cox, D. W., 462
Cox, P., 1337
Craufurd, D., 16
Cremers, C., 1074
Crews, D. E., 213
Csiszar, K., 958 (L)
Cunha, S., 1328
Cupples, L. A., 119, 664
Curtis, A., 16
Curtis, D., 16, 855
Curtis, P. J., 351
Cushner, S., 740 (L)
Cutting, G. R., 45

Dahl, N., 879


Dailey, T., 176
Dale, B.,,176
Dallapiccola, B., 7 (E), 146,
1393 (L)
Dang, M. H., 772
D'Angelo, A., 262 (L)
Datson, N. A., 1288, 1297
Dauwerse, H. G., 1297
David, G., 1328

Davidson, M. J., 16
Davis, M. B., 103
Dawson, D. M., 119
Dean, M., 417
de Franchis, R., 262 (L), 1391 (L)
De Fusco, M., 1019
De Gasperi, R., 1233
De Gennes, J. L., 431
Deka, R., 109
de la Chapelle, A., 1243
de la Cruz, F., 84
Del Bono, E. A., 613
Deleuze, F., 477 (L)
Demaine, A., 185
De Mattia, D., 887
De Michele, G., 554
den Dunnen, J. T., 834, 1297
Denton, P. H., 1040
De Paepe, A., 146
de Saint Basile, G., 625
de Sa Moreira, E., 1040
Deschenes, G., 1221
Deschenes, S. P., 799
DeShano, M., 547
Dessein, A. J., 453
DeStefano, A. L., 119
De Stefano, V., 262 (L)
Detera-Wadleigh, S. D., 731 (L)
Detsky, A. S., 301
De Verneuil, H., 847
Devoto, M., 152
Dhulipala, R., 1097
DiDonato, S., 475 (L)
Diehl, S. R., 731 (L)
Differ, A.-M., 16
Dlouhy, S. R., 12 (E)
di Minno, G., 262 (L)
Doane, W. W., 269 (L)
Dobkin, C., 478 (L)
Dode, C., 16
Dodge, A., 16
Doe, W. F., 818
Donis-Keller, H., 958 (L)
Drabkin, H., 1328
Drouot, L., 1221
Dry, K., 152
Duara, R., 664
du Boulay, C., 1193
Duffy, D. L., 731 (L)
Duggirala, R., 694
Duncan, A. M. V., 519
Dunn, J., 810
Durcan, S., 135
Duster, T., 487 (L)
Dutly, F., 1114

1418
Easton, D., 226
Easton, R. D., 213
Eberwine, J., 561
Eccles, D. M., 1193
Edkins, E., 818
Egeland, T., 360
Eggertson, D., 872
Eisenberg, R., 487 (L) (abstained)
Ek, B., 59
Elbedour, K., 385
Eldridge, R., 529
Elliott, J. L., 260 (L)
Elmslie, F. V., 653
Elpeleg, 0. N., 1012
Erlich, H. A., 1134, 1186
Essioux, L., 479 (L)
Evans, K., 864
Evett, I. W., 1399 (L)
Ewens, W. J., 983 (E)
Exelbert, R., 59

Faragher, I., 818


Farrer, L. A., 119, 664
Faure, S., 377
Feingold, E., 1108, 1252
Fekete, G., 958 (L)
Fellous, M., 964 (L)
Fermo, I., 262 (L)
Ferrell, R. E., 109, 204, 213
Filla, A., 554
Filosa, S., 887
Finck, S., 847
Fine, B., 487 (L)
Fink, J. K., 140
Fischer, A., 625
Fisher, A., 1193
Flanigan, K., 392
Fodde, R., 1193
Folstein, S. E., 16
Ford, D., 226
Forestier, L., 1221
Forget, B. G., 351
Forster, P., 185, 935
Forsythe, P., 152
Fouad, G. T., 135
Foubert, L., 431
Franchi, P. G., 1393 (L)
Francke, U., 781
Frants, R. R., 1288, 1297
Franz, M. L., 16
French FMF Consortium, The,
603
Fricker, J. P., 479 (L)
Friis, M. L., 653
Frontali, M., 16

Author Index for Volume 59

Fucharoen, G., 579


Fujiki, Y., 1210
Fujita, R., 152
Fukai, K., 620
Fukao, T., 519
Fukuda, S., 1210

Gaballah, M. F., 741 (L)


Gagel, R. F., 510
Gagne, E., 431
Gailani, M. R., 417
Gal, A., 1202
Gallagher, P. G., 351
Gallie, B. L., 301
Gallinger, S., 736 (L)
Galster, B., 392
Gama Sosa, M. A., 1233
Gao, G. P., 95
Garber, J. E., 547
Gardella, R., 292
Gardiner, R. M., 653
Gardner, K., 392
Garrett, C., 1337
Gaskell, P., 258 (L)
Gaskell, P. C. Jr., 1306
Gaspar, C., 119
Gasser, D. L., 743 (L), 744 (L)
Gatta, V., 1393 (L)
Gatti, R. A., 40, 839
Gelehrter, T. D., 968 (L)
Gelernter, J., 644
Gellera, C., 475 (L)
Gemmill, R., 1328
Ge'nin, E., 1149
Gerhard, D. S., 1343
Gershon, E. S., 731 (L)
Gessler, D. D. G., 1382
Ghosh, S., 825
Giacometti, N., 887
Giatras, I., 1221
Gilbert, F., 271 (L)
Gill, P. D., 1399 (L)
Ginsburg, D., 968 (L)
Girbach, L., 140
Girotti, F., 475 (L)
Giunti, P., 1328
Glicksman, A. E., 1252
Glombitza, G., 1048
Glorieux, F. H., 633
Godfrey, M., 1027
Goldin, L. R., 731 (L)
Goldman, A., 445
Goldstein, A., 417
Golovleva, I., 570
Gong, Y., 146

Good, R. A., 40
Goode, E. L., 990
Goodfellow, P., 260 (L)
Goodman, S. I., 1006
Goodship, J., 23
Gorin, M. B., 1074
Gould, D. B., 1321
Govan, G., 481 (L)
Goyette, P., 1268
Graham, C. A., 16
Grebe, T. A., 269 (L)
Green, R. C., 664
Greenberg, C. R., 872
Greenberger, P. A., 45
Greff, L. J., 613
Grice, D. E., 644
Griffin, D. K., 1108
Grobbee, D. E., 1119
Grootscholten, P. M., 834
Growdon, J. H., 664
Grunfeld, J.-P., 1221
Gschwend, M., 377
Gubler, M.-C., 1221
Guerra, M., 1306
Guldberg, P., 84
Gusella, J. F., 529, 1233
Guttler, F., 84
Guy, C., 912
Haataja, R., 540
Hadchouel, M., 477 (L)
Hahnen, E., 1057, 1163 (L)
Haines, J. L., 613, 664
Hales, C. N., 694
Halford, S., 23
Hall, B. D., 331
Hall, W. W., 204
Halliday, W., 872
Halloran Blanton, S., 744 (L)
Hamel, B. C. J., 781
Hamosh, A., 45
Han, F.-y., 331
Handt, O., 368
Hanefeld, F., 1163 (L)
Hanley, W. B., 84
Hanson, N. Q., 1262
Harding, A. E., 103, 481 (L),
1328
Harding, R., 935
Harihara, S., 579
Haris, I., 226
Harper, P. S., 16
Hartl, D., 272 (L)
Hashiguchi, N., 1210
Hassold, T. J., 1108

1419

Author Index for Volume 59

Hasson, T., 1074


Hattori, Y., 579
Hayasaka, K., 579
Hayden, M. R., 16, 431
Hayward, C., 1165 (L)
Hecht, J. T., 743 (L), 744 (L)
Hechtman, P., 52, 1035
Hedera, P., 140
Hedges, R., 185
Hedreen, J. C., 16
Heideman, P., 879
Heine, R.J., 1119
Helms, B. R., 1306
Helms, C., 958 (L)
Henriksen, K. F., 84
Henske, E. P., 400
Heus, J. J., 1297
Hillner, B., 287 (E)
Hinek, A., 52
Hirose, T., 146
Hirvonen, A., 128
Hodes, M. E., 12 (E)
Hodgson, S. V., 226
Hoffmann, A., 1048
Holinski-Feder, E., 1168 (L)
Holtzman, N., 487 (L)
Honer, W. G., 905
Hoorweg-Nijman, J. J. G., 879
Hornigold, N., 400
Horta, W., 1328
Horwitz, M., 990
Hou, Y., 52
Houck, G. E., Jr., 1252
Howell, N., 481 (L), 501, 749 (E)
Huang, C.-H., 825
Huang, E., 510
Huang, M.-M., 1186
Hulette, C. M., 1306
Hurko, O., 684
Hyland, J., 1097

Ikawa, Y., 1084


Ilonen, J., 462
Imaizumi, K., 1210
Inglehearn, C. F., 864
Inoue, K., 32
Ito, H., 620

Jacassier, D., 1221

Jackson, A., 16
Jacobson, S. G., 1074
Jaeken, J., 810
Jain, K. D., 269 (L)
Jans, A., 146
Jarvik, G. P., 990

Jay, M., 864


Jedele, K. B., 1168 (L)
Jenkins, L. S., 167
Jenkins, T., 445, 1091
Jeppesen, P., 1091
Jin, M., 95
Johnson, A. B., 95
Johnstone, K. A., 23
Jokinen, A., 1097
Jones, L., 912
Jones, S. M., 140
Jorde, L. B., 159
Joseph, A., 1012
Kaiser-Kupfer, M. I., 529
Kanazawa, I., 1313
Kandefer-Szerszen, M., 570
Kandil, H. H., 620
Kaneko, A., 1084
Kant, J., 547
Kaplan, C., 392
Kaplan, F., 52
Kaplan, J.-C., 16
Kaplan, P., 781
Karaguzel, A., 1114
Karim, M. A., 620
Karson, E. M., 167
Kassovska-Bratinova, S., 519
Kato, M. V., 1084
Kaul, R., 95
Kawanishi, C., 32
Kazazian, H. H., Jr., 234
Kelley, P. M., 1074
Kemp, T. J., 1066
Kennedy, J. L., 264 (L), 905
Kerr, M., 653
Keser, I., 1114
Khan, H. N., 301
Khan, P. M., 818
Kidd, K. K., 644
Kim, U.-J., 23
Kimberling, W. J., 1074
Kimura, H., 343
Kimura, K., 32
Kimura, S., 32
King, P., 487 (L)
Kitamura, K., 331
Kitcher, P., 487 (L)
Kivirikko, S., 1097
Kjeldsen, M. J., 653
Klempan, T. A., 905
Klinger, K. W., 918
Klitz, W., 1134
Knapp, M., 485 (L)
Knebelmann, B., 1221

Knight, S. J. L., 847


Knip, M., 462
Knoll, J. H. M., 423
Kobayashi, K., 1313
Koch, R., 84
Koda, Y., 343
Kodish, E. D., 1170 (L)
Kohonen-Corish, M., 818
Kolodny, E. H., 1233
Kondo, N., 519, 1210
Kool, D. A., 818
Korab-Laskowska, M., 633
Korf, B., 423
Korn, R., 1097
Kosaka, K., 32
Kotula, L., 351
Kozyra, A., 234
Krane, D., 272 (L)
Krause, A., 445
Kresse, H., 1202
Krings, M., 368
Krivit, W., 1233
Krolewski, A. S., 1376
Kruglyak, L., 377
Kubacka, I., 501
Kuhnle, U., 510
Kuivaniemi, H., 1097
Kume, A., 140
Kunkel, L. M., 1040
Kurlan, R., 644
Kuroki, Y., 1210
Kurz, A., 664
Kwiatkowski, D. J., 400
Kwon, J. M., 260 (L)

Labuda, D., 633


Labuda, M., 633
LaBuda, M. C., 684, 1343
Lacombe, D., 847
Lagelouse, R. D., 625
Lalioti, M. D., 66
Lanchbury, J. S., 226
Lander, E. S., 377
Lange, K., 717
Langlois, S., 431
Laurent-Puig, P., 479 (L)
Lavin, M., 40
Lazzeroni, L., 1186
Leana-Cox, J., 167
Leckman, J. F., 644
Ledoux, P., 1035
Lee, J., 226
Leeflang, E. P., 896
Leggo, J., 16
Leibel, R. L., 694

1420
Leisti, J., 540
Lemm, T., 1048
Lennard-Jones, J., 226
Lennon, F., 258 (L)
Lennox, G. G., 320
Le Paslier, D., 625
Leppert, M., 140
Leppert, M. F., 392
Levanat, S., 417
Levenkron, J. C., 234
Levran, O., 377
Levy, H. L., 84
Lewis, F. A., III, 1252
Leysens, N.J., 1288
Li, Q. Y., 1337
Li, S. Y., 1252
Liang, T., 40
Liaw, Y.-F., 128
Lidov, H. G. W., 1040
Limacher, J. M., 479 (L)
Limprasert, P., 1252
Lindgren, C., 1288
Liu, J., 146
Liu, Y., 343
Loader, S., 234
Losekoot, M., 16
Litleci, G., 1114
Lum, J. K., 256 (L)
Lundgren, E., 570
Lunetta, K. L., 717
Luzzatto, L., 887
Lynch, H. T., 1184 (E)
Lynn, A., 66
Lyonnet, S., 1337

Maassen, J. A., 855, 1119


Macaulay, V. A., 185, 1276
MacCollin, M. M., 331, 529
Macek, M., Jr., 45
MacFarlane, H., 1233
Maciel, P., 119
Mackey, D. A., 481 (L), 501
MacLean, J., 45
Macleod, A., 855
MacLeod, P., 119
MacMillan, J. C., 16
Macrae, F., 818
Madhatheri, S., 1097
Madlensky, L., 736 (L)
Mahuran, D. J., 52
Malcolm, S., 744 (L)
Maldonado, M., 1343
Malpassi, P., 248 (L)
Malyarchuk, B. A., 1167 (L)
Mancardi, G., 739 (L)

Author Index for Volume 59

Mancini, F. P., 262 (L)

Mandel, H., 1012


Mandel, J.-L., 847
Mandich, P., 739 (L)
Maquat, L. E., 279 (E)

Marchesi, S. L., 351


Margaglione, M., 262 (L)
Marini, D., 292
Marshall, D., 1343
Martini, G., 887
Mastroianni, N., 1019
Masuno, M., 1210
Matalon, R., 84, 95
Mathay, J., 140
Mathew, C. G., 226
Mathivon, L., 879
Matin, F., 128
Matsubayashi, S., 579
Mazzola, G., 262 (L)
McCabe, L., 762 (E)
McCarron, S., 1097
McConville, C. M., 320
McDermott, M. F., 676
McGuffin, P., 912
McGuire, G. M., 320
McHenry, C., 152
McInerney, J., 487 (L)
McInnis, M. G., 973 (E)
McKie, J. M., 23
McKusick, V., 487 (L)
McLaughlin, B. A., 561
McNally, E. M., 1040
McPeek, M. S., 896
Mears, A. J., 1321
Meershoek, E. J., 1297
Mehlman, M. J., 1170 (L)
Meindl, A., 1168 (L)
Meisler, M. H., 764 (R)
Meng, G., 1163 (L)
Meo, T., 308
Meoni, C., 475 (L)
Merriwether, D. A., 204, 213
Metzenberg, S., 252 (L)
Michels, V., 331
Miller, P. W., 45
Millie, E. A., 1108
Mingarelli, R., 1393 (L)
Mirzayans, F., 1321
Misiano, G., 308
Mitchell, B. D., 694
Mitchell, G. A., 519
Mitchell, J. J., 793
Mitri, A., 736 (L)
Miyake, M., 1313
Mizuno, K., 1313

Moisio, A.-L., 1243


Moller, C., 1074
M0ller, P., 486 (L)
Molloy, M. G., 676
Monticelli, A., 554
Moore, K. J., 620
Moore, T., 864
Mooseker, M., 1074
Morgan, K., 872
Morrison, H., 1091
Morrison, P., 16
Morton, D. H., 1006
Morton, N. E., 1398 (L)
Mulcahy, B., 676
Mulliken, J. B., 744 (L)
Mullis, P. E., 879
Mulvihill, J., 487 (L)
Munne, S., 176
Munnich, A., 958 (L), 1337
Murayama, K., 579
Murphy, K., 912
Murray, J., 487 (L)
Murray, J. C., 1288, 1297
Murray, M., 1306
Murray, R., 487 (L)
Murray, T., 487 (L)

Nagayoshi, M., 1084


Nahmias, J., 400
Nakagome, Y., 1313
Nakahori, Y., 1313
Nakamura, Y., 1313
Nance, M. A., 1 (E)
Naom, I., 226
Narod, S. A., 736 (L)
Natarajan, A. T., 1091
Navia, B. A., 152
Navidi, W., 772, 1186
Nelkin, D., 487 (L)
Nelson, D. L., 407
Nelson, L. M., 159
Newbury-Ecob, R., 1337
Nezu, A., 32
Nicholls, R. D., 423
Nichols, R. C., 59
Nicholson, H. S., 529
Nicholson, J., 968 (L)
Nigro, L., 1363
Nikoskelainen, E., 481 (L)
Noble, J. A., 1134
Nobukuni, Y., 76
Nolin, S. L., 1252
Noorani, H. Z., 301
Norby, S., 481 (L)
Novelletto, A., 16

1421

Author Index for Volume 59

Novelli, G., 7 (E)


Nylen, E., 872
Ochs, H. D., 839
O'Connell, P., 694
O'Donovan, M. C., 912
O'Gara, F., 676
Oh, J., 620
Olaisen, B., 360
Olsen, B. R., 146
Omoto, K., 579
Onengut, S., 839
Onishi, H., 32
Oostra, R.-J., 481 (L)
Orii, T., 1210
Orten, D. J., 1074
Osaka, H., 32
Osawa, M., 1313
Osumi, T., 1210
Ott, J., 152
Otten, K., 1343
Otterud, B., 140, 392
Overbeck, L. D., 1074
Overhauser, J., 999
Owen, M. J., 912
Ozand, P., 1048
Paabo, S., 368, 437, 493 (L),
741 (L)
Pages, S., 479 (L)
Pagnini, D., 887
Pakstis, A. J., 644
Palka, G., 1393 (L)
Pallotti, F., 591
Pan, I-H., 579
Pang, K. A., 653
Papiha, S., 185
Park, K. S., 579
Parner, J., 918
Parry, D. M., 331, 529
Passarino, G., 927, 964 (L)
Passos-Bueno, M. R., 1040
Pastural, E., 625
Patel, P. I., 980 (E)
Paterson, A. D., 264 (L)
Pauls, D. L., 644
Pearce, W. G., 1321
Peltomaki, P., 1243
Peltonen, L., 146, 879
Peng, Y., 547
Peoples, R., 781
Perez-Cerda, C., 519
Perez Jurado, L. A., 781
Perheentupa, J., 879

Pericak-Vance, M. A., 258 (L),


1306
Perrin, G., 66
Petronis, A., 264 (L), 905
Petrozzi, M., 248 (L)
Petty, E. M., 968 (L)
Phelan, C. M., 331
Philip, J., 918
Phillips, J. C., 613
Pianese, L., 554
Piper, K., 453
Pizzuti, A., 7 (E)
Plotz, P. H., 59
Podleski, A., 272 (L)
Pohl, M., 879
Popowska, E., 633
Poulter, M., 1066
Poulton, J., 481 (L)
Pralea, A. M., 613
Pressman, C. L., 417
Primrose, J., 1193
Pronicka, E., 633
Propping, P., 331
Ptacek, L. J., 135, 392
Pulaski, K., 529
Pulkkinen, L., 1097
Punnett, H., 1097
Purandare, S. M., 159
Puukka, R., 462
Qin,J., 1186
Raben, N., 59
Rabinowitz, D., 726
Rabl, W., 510
Radvany, J., 119
Rainier, S., 140
Ramesar, R., 146
Ramsay, M., 445
Ranade, K., 377
Rand, E. B., 477 (L)
Ranen, N. G., 16
Rangaratnam, S., 331
Rao, V. S., 664
Raphael, S., 1097
Rapp, R., 487 (L)
Rathmann, M., 1202
Rebbeck, T. R., 547
Redd, A. J., 253 (L)
Rees, M., 653
Reid, M., 825
Reijonen, H., 462
Reinhart, L. J., 694
Riccardi, V. M., 331
Richards, M., 185

Richens, A., 653


Richter, S. F., 269 (L)
Riddle, M. A., 684
Rimmler, J. L., 1306
Risch, N., 951
Ritzen, M., 879
Robert, M.-F., 519
Roberts, E. J., 799
Robinson, W. P., 431, 1175 (E)
Rodrigues, V. Jr., 453
Rogan, P. K., 423
Rogus, J. J., 1376
Romeo, G., 879
Root, A. W., 633
Rosenberg, T., 481 (L)
Rosenblatt, D. S., 1268
Roses, A. D., 1306
Ross, C. A., 16
Ross, V. L., 818
Rossier, C., 66
Rothstein, M. A., 1169 (L)
Rouleau, G. A., 119, 331
Rouse, B. M., 84
Rowley, P. T., 234
Rozear, M., 258 (L)
Rozen, R., 1268
Rubinsztein, D. C., 16
Rudnik-Schoneborn, S., 1057,
1163 (L)
Rudolphi, O., 59
Ruttledge, M. H., 331
St. John, D. J. B., 818
Saito, K., 1313
Salem, A.-H., 741 (L)
Salzano, F. M., 253 (L)
Sandhoff, K., 1048

Santachiara-Benerecetti, A. S.,
927, 964 (L)
Santella, R. M., 128
Sartorato, E. L., 1233
Sasaki, M. S., 1084
Sasaki, T., 905
Satoshi, H., 579
Savontaus, M.-L., 481 (L)
Sawada, S., 159
Sawyer, S., 272 (L)

Saxton, M., 487 (L)


Scambler, P. J., 23
Schachter, H., 810
Scheffer, H., 834
Scheithauer, B. W., 400
Schenone, A., 739 (L)
Schepers, U., 1048
Schettini, F., 887

1422

Schinzel, A. A., 1114


Schmechel, D. E., 1306
Schon, E. A., 591
Schonling, J., 1057
Schutgens, R. B. H., 95
Schwartz, S., 167
Schwichtenberg, K., 1262
Scott, D. A., 385
Scozzari, R., 248 (L)
Scriver, C. R., 793, 1035
Sebastio, G., 262 (L), 1391 (L)
Seemanova, E., 744 (L)
Segal, M., 152
Seltzer, W. K., 269 (L)
Semina, E. V., 1288, 1297
Semino, O., 927, 964 (L)
Sequeiros, J., 119
Sereni, F., 1019
Servidei, S., 135
Shaag, A., 1012
Shamanski, F. L., 1405 (BR)
Shanahan, F., 676
Shapiro, M. S., 879
Sheffield, V. C., 385
Shen, S., 377
Shenkar, R., 772
Sherman, S. L., 1252
Sherr, M., 16
Shiloh, Y., 40
Shimizu, T., 1084
Shimkets, R., 417
Shimoya, K., 1097
Shimozawa, N., 1210
Shipman, P. A., 694
Short, M. P., 400
Short, P., 331
Shriver, M. D., 109
Sidransky, E., 740 (L)
Sieving, P. A., 152
Simpson, S. A., 16, 1165 (L)
Singer, H. S., 684
Sistonen, P., 1243
Siu, V. M., 417
Skarka, H., 76
Slavin, R. G., 45
Slayton, R. L., 799
Smith, C. S., 879
Smith, N. M., 1337
Sobol, H., 479 (L)
Soejima, M., 343
Solyom, J., 879
Somer, H., 146
Song, X.-Q., 519
Speer, M. C., 258 (L)
Speicher, D. W., 351

Author Index for Volume 59

Speight, G., 912


Spencer, C., 561
Sperandeo, M. P., 1391 (L)
Spielman, R. S., 983 (E)
Spotila, L., 1097
Spritz, R. A., 620
Spurdle, A. B., 1126
Stajich, J. M., 258 (L)
Stal, S., 744 (L)
Stankovic, T., 320
Stec, I., 962 (L)
Stein, D. E., 1006
Stein, J., 744 (L)
Steinbach, P., 1168 (L)
Steinmann, B., 146
Stenico, M., 1363
Stern, M. P., 694
Stevanin, G., 1328
Stevenson, T., 1288
Stine, 0. C., 16
Stivers, D. N., 109
Stolk, R. P., 1119
Stoll, C., 847
Stone, E. M., 385
Stoneking, M., 253 (L)
Stoppa-Lyonnet, D., 479 (L)
Stringham, H. M., 946
Stuppia, L., 1393 (L)
Su, Q., 95
Subramanian, P. S., 407
Sudarsky, L., 119
Sugiyama, N., 32
Sullivan, B. A., 167
Sumegi, J., 1074
Sun, C.-e, 731 (L)
Sundqvist, A., 653
Superti-Furga, A., 146
Surralles, J., 1091
Sutherland, H. F., 23
Suzuki, Y., 1210
Swaroop, A., 152
Sweeney, M. G., 103
Swingler, R. J., 1165 (L)
Swoboda, W., 146
Sykes, B. C., 185, 1276

Tavare, S., 772


Tayebi, N., 740 (L)
Taylor, A. M. R., 320
Taylor, C., 23
Telatar, M., 40
Teraoka, S., 839
Terracina, M., 248 (L)
Terrett, J. A., 1337
't Hart, L. M., 1119
Theilmann, J., 16
Thomas, G., 479 (L), 1134
Thomas, P. M., 510
Tim, R. M., 258 (L)
Toda, T., 1313
Tokunaga, K., 1313
Tolun, A., 839
Tomatsu, S., 1210
Tonin, P., 736 (L)
Torroni, A., 248 (L), 935
Tosi, M., 308
Trefz, F., 84
Tromp, G., 1097
Trottier, Y., 16
Tsai, M. Y., 1262
Tsukamoto, T., 1210
Tylki-Szymanska, A., 1202

Tachibana, M., 76
Taine, L., 847
Takeda, K., 76
Tan, J., 810
Taroni, F., 475 (L)
Tarttelin, E., 864
Tate, A., 1097
Tatuch, Y., 905
Taub, R., 477 (L)

1297
van Slegtenhorst, M., 400
van Staalduinen, A. A. A., 1297
Varvil, T., 140

Udar, N., 40
Ugarte, M., 519
Uhlmann, W. R., 968 (L)
Urban, Z., 958 (L)
Uresandi, 0. C., 694

Vad, M., 918


Vahlne, A., 204
Vainzof, M., 1040
Vaisanen, M.-L., 540
Valdes, A. M., 1134
van Broeckhoven, C., 664
Vance, J. M., 258 (L), 1040
van den Boogaard, M.-J., 146
van der Does, F. E. E., 1119
van der Luijt, R., 1193
van der Steege, G., 834
van Duijn, C. M., 664
van Ommen, G.-J. B., 834, 1288,

Vavougios, G., 52
Veijola, R., 462
Verlander, P. C., 377
Verpy, E., 308
Vikkula, M., 146

1423

Author Index for Volume 59

Vikman, A., 879


Vilmer, E., 625
Vincent, J. B., 905
Viskochil, D. H., 159
Vithana, E., 864
Vobecky, S., 519
Voit, T., 1163 (L)
Volicer, L., 664
von Haeseler, A., 437

Wadey, R., 23
Wagenaar, M., 1074
Walden, S. M., 45
Waldron-Lynch, F., 676
Walkup, J. T., 684
Wallace, D. C., 248 (L)
Walter, M. A., 1321
Wang, L.-W., 128
Wang, M., 1027
Wang, S., 731 (L)
Wang, Y., 351
Wang, Z., 40
Wangwei, C., 887
Ward, B. E., 918
Ward, K., 159
Ward, R. H., 368, 676
Warman, M. L., 146
Watanabe, A., 76
Watkins, W. S., 159
Watson, E., 437
Weber, B. H. F., 962 (L)
Weber, B. L., 547
Weiler, T., 872

Weir, B. S., 497 (E), 1399 (L)


Weiss, G., 437
Weissenbach, J., 377, 625, 633,
1243, 1328
Weksberg, R., 331
Wells, J., 664
Welsh, C. T., 400
Welsh-Bohmer, K. A., 1306
West, S., 258 (L)
Weston, M. D., 1074
Wexler, N., 487 (L)
White, L. M., 423
Whitehouse, P., 1170 (L)
Whitehouse, W. P., 653
Whittaker, J. L., 16
Whittemore, A. S., 704
Wiggs, J. L., 613
Wijnen, J., 818
Wilkinson-Herbots, H., 185
Wilkowski, J., 140
Williams, C. J., 1097
Williamson, M. P., 653
Willing, M. C., 799
Winter, R., 744 (L)
Wirth, B., 1057, 1163 (L)
Wohllk, N., 510
Wohrle, D., 1168 (L)
Wollmann, R., 400
Wolpert, C., 258 (L)
Wood, N., 1328
Wood, N. W., 103
Wright, A. F., 152
Wright, J., 839

Wrogemann, K., 872


Wu, B.-L., 423
Wu, K. K., 52
Xia, L., 736 (L)
Xu, S., 1382

Yamada, Y., 32
Yamaoka, L. H., 1306
Yang-Feng, T., 417
Yao, Q.-Y., 320
Ye, L. L., 1252
Yee, W.-C., 260 (L)
Ying, D.-J., 905
Yosefsberg, S., 385
Yu, J., 1186
Yu, L. M., 109
Yu, M.-W., 128
Zabel, B. U., 146, 1288
Zappacosta, B., 475 (L)
Zappata, S., 834
Zatz, M., 1040
Zerres, K., 1057, 1163 (L)
Zhang, H., 951
Zhang, Z., 1210
Zheng, C.-J., 268 (L), 1397 (L)
Zhong, N., 478 (L), 1252
Zhu, D. K., 676
Zi~tkiewicz, E., 633
Zinn, A. B., 1170 (L)
Zlotogora, J., 879
Zoppi, N., 292

Subject Index for Volume 59


(ASHG) = American Society of Human Genetics statement; (E) = editorial; (L) = letter to the editor; (R) = review
article
ABC transporter, 66
ABO, 343
Acrocentric, 167
Active-site residue, 52
Adenomatous polyposis, 1193
Adolescents, 762 (E)
adRP, 864
AFBAC method (affected family-based controls
method), 983 (E)
Affected family-based controls method (AFBAC
method), 983 (E)
Affected-pedigree-member method, 1343
Affected sib pairs, 462
Method, 485 (L)
Aflatoxin, 128
Africa/Africans, 437, 445, 1040, 1126
Age at onset, 119, 264 (L), 1233
AGG interruptions, 540
Aging, 591
Alagille syndrome, 477 (L)
Albinism, 625
Allele(s)
Frequencies, 1126
Genealogies, 1363
Sharing, 1343
Size, 360
Allele-specific primer extension, 570
Allelic loss, 400
Allergic bronchopulmonary aspergillosis, 45
Alport syndrome, 1221
Alternative splicing, 59, 66
Alternative transcripts, 818
Alzheimer disease, 264 (L), 664
Amerindians, 213
Aminoacylase II, 95
Amish, 1006
Amyotrophic lateral sclerosis, 1165 (L)
Ancestral haplotype, 603
Ancient DNA, 368
Anemia, 351
Aneuploidy, 176
Angelman syndrome, 423
Angioedema, 308
Angiomyolipoma, 400
Anonymous testing, 968 (L)
Antibody, 1091
Anticipation, 16, 264 (L), 392, 905, 973 (E), 990, 1328
Aortic stenosis, supravalvular, 781
APC gene, 1193
1424

Apolipoprotein E, 664
Arthritis, 1097
Ascertainment bias, 726
ASPA gene, 95
Association studies, 462, 1119
Asthma, 45
Ataxia, 320, 731 (L)
Autosomal dominant cerebellar, 1328
Friedreich, 554
Spinocerebellar, 16, 119, 392, 731 (L), 1328
Ataxia-telangiectasia, 40, 839
ATM gene, 839
ATP-dependent potassium channel, 510
Autoimmune disease, 1097
Autoimmunity, 879
Autosomal recessive, 1163 (L)
B1 variant, 52
Bacterial genetics, 749 (E)
Balanced translocation, 999
Basal cell carcinoma, 417
BCL3, 743 (L), 744 (L)
Beals syndrome, 1027
Bedouin, 385, 741 (L)
beige, 620
Beige mouse, 625
,-Hexosaminidase 1175, 52
,B-Thalassemia, 762 (E), 793
Biparental inheritance, 423
Bipolar affective disorder, 1343
Black Jews, 1126
Blau syndrome, 1097
Blindness, 146
Blood proteins, 1167 (L)
Bone, 146

Books reviewed, author(s)/editor(s):


Christensen, B., 1403
Crawford, E. C., 1403
Glover, D. M., 1404
Hall, K., 1405
Hunt, T., 1404
Hutchison, C., 1404
Murray, A., 1404
Ohlsson, R., 1405
Phelan, M. C., 1403
Ritzen, M., 1405
Schroer, R. J., 1403
Sweet, K. M., 1403
Tarleton, J. C., 1403

Subject Index for Volume 59

Taylor, H. A., 1403


Books reviewed, title:
Cell Cycle: An Introduction, The, 1404
Cell Cycle Control, 1404
Counseling Aids for Geneticists, 3d ed., 1403
Genomic Imprinting: Causes and Consequences,
1405
Branching processes, 772
Brazilians, 1040
BRCA1, 479 (L), 486 (L), 547
BRCA2, 547, 962 (L)
Breast cancer, 264 (L), 486 (L), 547, 962
Breast-ovarian cancer, 479 (L)
C1 inhibitor, 308
CAG, 912
Repeat, 561
Canavan disease, 95
Cancer
Breast, 486 (L), 547, 962 (L)
Breast-ovarian, 479 (L)
Colon, 264 (L), 1243
Hepatocellular, 128
Ovarian, 264 (L), 486 (L), 547
Susceptibility, 839

Carbohydrate-deficient glycoprotein syndrome, 810


Carcinoma

Basal cell, 417


Hepatocellular, 128
Carrier detection, 839
Carrier screening, 234, 269 (L), 271 (L)
CATCH22 syndrome, 7 (E)
Caucasoid, 927
CBFB, 990
CBL2, 990
cDNA

Cloning, 1210
Mutations, 40
Ceiling principle, 272 (L)
Cell mosaicism, 887
Cerebellar ataxia, 1328
Cerebellum, 392
CGG repeat, 1252
CGGn repeat, 540
Charcot-Marie-Tooth disease, 258 (L), 260 (L)
Type 1A, 12 (E), 739 (L)
Chediak-Higashi syndrome, 620, 625
Chimeric genes, 1066
Choreoathetosis, 135, 140
Chorionic villi sampling, 918
Chromatids, 176
Chromatin structure, 407
Chromosome
Aberrations, 918
Deletion, 152

1425
Mapping, 717
Chromosome 1, 620
Chromosome lq, 625
Chromosome 2q, 135, 140
Chromosome 3, 258 (L), 1328
Chromosome 4, 855
Chromosome 4q25, 1297
Chromosome 5, 519, 834
Chromosome 6, 653, 1210
Chromosome 6p25, 1321
Chromosome 7, 781, 999
Chromosome 7q11.23, 958 (L)
Chromosome 8, 431
Chromosome 9, 385
Chromosome 9q, 417
Chromosome 9q31, 1313
Chromosome 11, 146
Chromosome 12 translocation, 1337
Chromosome 13, 176
Chromosome 13, 613
Chromosome 14, 810
Chromosome 16, 377, 1097
Chromosome 16pl3.3, 603
Chromosome 17, 1306
Chromosome 18, 176, 999
Chromosome 19, 743 (L), 744 (L)
Chromosome 19q13.4, 864
Chromosome 21, 66, 176, 1108
Chromosome 22q11, 7 (E), 23
Chromosome X, 152, 1091
Diseases, 32, 103
Inactivation, 103, 887, 1091
Chromosome Y. 741 (L), 964 (L), 1108, 1126,
1393 (L)
Chronic nonspherocytic hemolytic anemia, 887
Cleft lip and palate, 743 (L), 744 (L)
Clovis, 935
Coalescent theory, 935
Codominant traits, 825
Cognition, 756 (E)
COL4AS gene, 1221
Collagen type VII, 292
Colon cancer, 264 (L), 1243
Community genetics, 793
Comparative maps, 764 (R)
Complex traits, 764 (R)
Compound heterozygotes, 40, 59
Concordant sib pairs, 951
Conditional likelihood, 726
Confidentiality, 471 (ASHG)
Congenital contractural arachnodactyly, 1027
Congenital disease, 810
Consanguinity, 1149
Contiguous-gene-deletion syndrome, 756 (E), 958 (L)
Control region, 1363

1426
Cosegregation analysis, 479 (L)
Cost, genetic testing, 287 (E)
Cost analysis, 301
Counseling, genetic, 479 (L), 793, 968 (L), 1169 (L),
1170 (L), 1186
Crohn disease, 226
Crossing-over, 1186
Cystathionine 3-synthase, 1262, 1391 (L)
Cystic fibrosis, 45, 234, 269 (L), 271 (L)
Cytogenetics, 167, 176, 478 (L), 1393 (L)
D4 dopamine receptor (DRD4), 644
De novo duplication, 739 (L)
Deafness, 385, 1074
Degeneration, 973 (E)
Deletion(s), 1057
Chromosome 9, 417
Submicroscopic, 477 (L)
Delta F508, 269 (L)
Dementia, 1306
Demic diffusion, 964 (L)
Demographic history, 437
Desmoid tumors, 1184 (E), 1193
Diabetes mellitus, 264 (L), 462, 694, 855, 1119, 1376
Diabetic neuropathy, 1376
Diagnostic testing, 475 (L)
Dicentric Robertsonian translocation, 167
Digenic inheritance, 1400 (L)
DiGeorge syndrome, 7 (E), 23
Dipeptidase, 1035
Discordant sib pairs, 951, 1376
Disease, 279 (E)
Association, 983 (E), 1134
Genes, 764 (R)
Disequilibrium, 731 (L)

Disinhibition-dementia-parkinsonism-amyotrophy
complex, 1306
Disomy, 1108
DMPK locus, 109
DNA
Ancient, 368
Fingerprinting, 272 (L)
Identification, 1398 (L)
Polymorphism, 360, 1395 (L)
Profile, 1399 (L)
Dopaminergic, 644
Down syndrome, 1395 (L)
DPB1 association, 1134
Drosophila homologue, 66
Duplications, 32
Proteolipid protein gene, 12 (E)
Dyskinesia, 135
Dystonia, 135, 140
East Asians, 579

Subject Index for Volume 59

EcoRI blots, 847


Efficient score, 704
Elastin, 756 (E)
Gene, 781, 958 (L)
Elliptocytosis, 351
EMS assay, 76

Epidermal growth factor, 1288


Epidermolysis bullosa, 292
Epilepsy, 135, 653
Erythrocyte membrane proteins, 825
Ethics, biomedical, 471 (ASHG)
Etiology, 547
Europe, 964 (L)
European populations, 185, 1363

Evolution
Human, 501
mtDNA, 501
Exon
Deletions, 40
Trapping, 66
Expression profile, 561
Eye diseases, 146

Familial adenomatous polyposis, 1184 (E), 1193


Familial amyotrophic lateral sclerosis, 1165 (L)
Familial correlations, 119
Familial hyperinsulinism, 510
Familial Mediterranean fever, 603
Family history, 547
Family study, 684
Fanconi anemia, 377
FBN2, 1027
Female meiosis, 109
FiberFISH, 1297
Fibrillin, 1027
Fibromatosis, 1193
FISH, 176, 407, 423, 918, 1091, 1108, 1337
Fluctuation analysis, 749 (E)
FMF gene, 603
FMR1, 252 (L), 540, 1252
Folic acid, 1268
Forensics, 1399 (L)
DNA evidence, 497 (E), 1398 (L)
Forkhead protein, 613
Founder effect, 248 (L), 445, 633, 1243
Founder haplotype, 603
Founding lineages, 204, 213
Fragile X, 407, 478 (L), 1252
Site(s), 478 (L), 847
Syndrome, 252 (L), 540
Frameshift mutation(s), 279 (E), 799, 1048, 1210
FRAXA, 407, 478 (L), 847
FRAXE, 407, 478 (L), 847
Prevalence, 1168 (L)
French Canadians, 633

1427

Subject Index for Volume 59

Friedreich ataxia, 554


Frontotemporal dementia, 1306
Fukuyama-type congenital muscular dystrophy, 1313
Fusion gene, 343
FUT2 deficiency, 343
GAA repeat, 554
Galactocerebrosidase, 1233
Gamma-sarcoglycan, 1040
Gangliosidosis, 52, 1048
Gaucher disease, 740 (L)
Gene
Conversion, 834, 1057, 1066
Family, 570
Mapping, 872, 1337
Rearrangement, 825
Genetic counseling, 479 (L), 793, 968 (L), 1169 (L),
1170 (L), 1186
Genetic linkage, 983 (E)
Genetic mapping, 958 (L), 1186, 1328
Genetic modifiers, 119
Genetic predisposition, 226
Genetic research, 471 (ASHG)
Genetic testing, 287 (E), 471 (ASHG), 1169 (L),
1170 (L)
Genetic variation, 825, 1262
Genomic imprinting, 431, 781, 1084
Genomic variation, 493 (E)
Genotype-phenotype, 1184 (E)
Correlation, 308
Relationship, 554
Germ-line mosaicism, 268 (L), 1397 (L)
Germ-line mutation(s), 486 (L), 529
Gitelman syndrome, 1019
Glaucoma, 613, 1321
Globoid-cell leukodystrophy, 1233
Glucocerebrosidase gene, 740 (L)
Glucose-6-phosphate dehydrogenase, 887
Glutaric acidemia type I, 1006
Glutaric aciduria type 1, 1012
Glutaryl-CoA dehydrogenase, 1006, 1012
Glutathione S-transferase Ml and Ti, 128
Glycogenosis type VII, 59
Glycoprotein synthesis, 810
Gorlin syndrome, 417
Granulomatosis, 1097

Haploinsufficiency, 23, 76
Haplotype(s)/haplotyping, 351, 879
Analysis, 872, 1126, 1313
Myotonic dystrophy, 445
Sharing, 1343
Hematopoiesis, 887
Hepatitis B, 128
Hepatocellular carcinoma, 128

Hereditary desmoid disease, 1193


Hereditary motor and sensory neuropathy, 260 (L),
739 (L)
Hereditary nonpolyposis colorectal cancer, 736 (L),
818, 1243
Hereditary sensory and autonomic neuropathy, 258 (L)
Heterogeneity, 167, 547, 855, 1163 (L)
Heteroplasmic mutations, 1276
Heteroplasmy, 368
Heterozygosity, CF, 45
Hispanics, 269 (L), 271 (L)
Histone H4, 1091
HLA, 226, 462, 1097, 1186,
Class II, 1134
hMLH1, 736 (L), 818
hMSH2, 818
Holt-Oram syndrome, 1337
Homocysteine, 1268
Homocystinuria, 1268, 1391 (L)
Homogeneity, 879
Homozygosity mapping, 385, 377, 620
HTR2, 1084
Human Genome Project, 764 (R)
Hunter syndrome, 1202
Huntington disease, 1 (E), 16, 475 (L), 561, 968 (L)
Hybrid genes, 1057
Hyperglycemia, 1119
Hyperhomocysteinemia, 262, 1262, 1268
Hyperphenylalaninemia, 84
Hypopigmentation, 620

Identity by descent, 485 (L), 1149, 1382


Iduronate-2-sulfatase gene, 1202
Imidodipeptiduria, 1035
Immunodeficiency, 620
Immunoglobulin heavy-chain variable region, 462
Imprinting, 423, 756 (E), 1114
India, 927
Indo-Europeans, 927
Infertility, 1393 (L)
Inflammatory bowel disease, 226
Informed consent, 471 (ASHG)
Inheritance models, 684
Insulin secretion, 510
Insulin-dependent diabetes mellitus, 462, 1134, 1376
Insulin-receptor gene, 1119
Interferon-cc, 570
Interleukine-5, 453
Interval mapping, 1382
Interval-6 deletion, 1393 (L)
Intron retention, 59
In vitro mutagenesis, 95
Ion transport, 1019
Ion-channel gene, 140
IQ, 487 (L)

1428

Subject Index for Volume 59

Iridogoniodysgenesis, 1321
Isochromosome 2p, 1114
Isochromosome 2q, 1114
Isodisomy 2, 1114
IT1S gene, 475 (L)

Jacobsen syndrome, 990


Japan/Japanese, 343, 579
Jewish, 603, 1012
Juvenile myoclonic epilepsy, 653
Kearns-Sayre syndrome, 591, 772
Kinship, 1398 (L)
Krabbe disease, 1233

Leber hereditary optic neuropathy, 103, 248 (L), 481

(L), 501

Lemba, 1126
Length dependence, 561
Leukemia, 973 (E), 990
Leukodystrophy, 95
Globoid cell, 1233
LGMD2B, 872

Likelihood
Conditional, 726
Function, 704
LIM kinase 1, 756 (E)
Limb girdle, 872

Muscular dystrophy, 1040, 1400 (L)

Linkage, 146, 258 (L), 385, 625, 694, 731 (L), 879,
1306

Analysis, 268 (L), 485 (L), 613, 653, 743 (L), 744
(L), 855, 946, 951, 1097, 1343, 1397 (L)
Disequilibrium, 159, 879, 983 (E)
Analysis, 633
Mapping, 1313

Multipoint, 704
Nonparametric, 704
Psychiatric illness, 644
Lipoprotein lipase deficiency, 431
LOD score, 704
Negative, 479 (L)
Long-template PCR, 740 (L)
Loss-of-function mutations, 76
Loss of heterozygosity (or allelic loss), 400
Luria-Delbruck analysis, 633, 749 (E), 772
Lysosomal storage disease, 52

Machado-Joseph disease, 119


Major gene, 453
Inheritance, 664
Males, 1186
Map(s)/mapping
Gene/genetic, 958 (L), 1186, 1328, 1337

Interval, 1382
Physical, 625, 1288, 1297, 1328
Marker alleles, 485 (L)
Martin-Bell syndrome, 1168 (L)
Matching probability, 1398 (L)
Maternal age effect, 268 (L), 1397 (L)
Maternal isodisomy, 1114
Maximum-likelihood estimation, 109
Median networks, 935
Meiosis, 268 (L), 1395 (L), 109
Meiotic drive, 896
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes), 591
Membrane skeleton, 351
Mental retardation, 847
Methylation, 847
Methylenetetrahydrofolate, 1268
Reductase, 262 (L), 1268
Microdeletion, 781
Micronuclei, 1091
Microsatellite, 1313
Markers, 676
Migration, 204, 213
Minisatellite, 360
MITF gene, 76
Mitochondrial genetics, 501
Mitochondrial genome, 749 (E)
Mitochondrial transmission, 481 (L)
Miyoshi myopathy, 872
MLH1, 1243
Model(s), 717
Selection, 896
Model organisms, 764 (R)
Molecular mechanism(s), 973 (L)
Genetic anticipation, 905
Mongolia, 204
Mouse, 764 (R)
Movement disorder, 135
mRNA decay, 799
mtDNA, 103, 185, 204, 213, 248 (L), 253 (L), 256 (L),
368, 437,481 (L), 493 (E), 501, 579, 591, 741 (L),
749 (E), 927, 935, 1167 (L), 1276, 1363
Deletion rates, 772
Mucopolysaccharidosis type II, 1202
Muir-Torre syndrome, 736 (L)
Multicase families, 676
Multifactorial disease, 1149
Multiplex PCR, 12 (E)
Multipoint linkage, 704
Muscular dystrophy
Limb girdle, 872, 1040, 1400 (L)
Mutagenically separated PCR (MS-PCR), 159
Mutation(s), 84, 262 (L), 1012, 1019, 1027, 1040,
1119, 1221, 1243,
14484, 248 (L)

1429

Subject Index for Volume 59

Analysis, 95, 269 (L), 271 (L), 289 (E), 481 (L), 510,
749 (E)
Ataxia, 320
BRCA1, 479 (L)
Canavan disease, 95
Cystic fibrosis, 45
Detection, 289 (E), 740 (L)
SCOT, 519
Frameshift, 279 (E)
Glutaric acidemia type I, 1006
Hot spot, 1202
Leukodystrophy, 1233
Mitochondrial, 481 (L), 493 (E)
Neurofibromatosis, 331
Nonsense, 279 (E)
Point, 591
Rate, hypervariable VNTR g3 (D7S22), 360
Screening, 839, 1074
Spectrin, 351
Splicing, 292
Myelin
Formation, 32
Genes, 12 (E)
Myosin VIIa, 1074
Myotonia atrophica, 252 (L)
Myotonic dystrophy, 445, 896

N-acetylglucosaminyltransferase II, 810


Na-Cl cotransport, 1019
NARP (neuropathy, ataxia, and retinitis pigmentosa),
591
National Research Council report, 497 (E)
Native Americans, 253 (L), 256 (L), 368
Migrations, 935
Natural history, 1184 (E)
Neolithic period, 185, 964 (L)
Neurocristopathy, 1321
Neurodegenerative disorder, 855
Neurofibromatosis
Type 1, 159
Type 2, 331, 529
Neurogenetic disorders, 1 (E)
Neurological development, 810
Neuropathy, 258 (L), 260 (L), 392
Neurosensory deafness, 385
Nevoid basal cell carcinoma syndrome, 417
New World, 204, 213
NF2 gene, 331, 529
9-bp deletion, 579
Non-Ashkenazi Jews, 603
Nondeletion, 423
Non-insulin-dependent diabetes mellitus, 694
Nonkinesiogenic familial paroxysmal dyskinesia, 135
Non-Mendelian diseases, 264 (L)
Nondisjunction, 176, 1395 (L)

Nonparametric linkage, 704


Nonsecretor, 343
Nonsense codons, 279 (E)
Nonsense mutation(s), 279 (E), 799
Nonsyndromic autosomal recessive deafness, 385
Norwegians, 486 (L)
Nuclear insertions, 368
Nucleosomes, 252 (L)
Nucleotide diversity, 579
Null alleles, COLlA1, 799
OB gene, 694
Obesity, 694
Obsessive-compulsive disorder, 684
Old Order Amish, 1006
Oligozoospermia, 1393 (L)
Oocyte(s), 176
Selection, 268 (L), 1397 (L)
Osteogenesis imperfecta type I, 799
Osteoporosis, 146
Ovarian cancer, 486 (L), 547
Oxidative stress, 887

Paleolithic, 185
Parental origin of mutation, 1202
Parkinsonism, 1306
Paroxysmal disorder, 140
Paroxysmal dyskinesia, 135
PCR, 896
Comparative multiplex, 32
Errors, 368
Sequence-specific oligonucleotide probe HLA typing,
1134
Pedigree
Analysis, 481 (L)
Error, 946
Pelizaeus-Merzbacher disease, 12 (E), 32
Penetrance, 1 (E), 16
PEPD, 1035
Peroxisome deficiency, 1210
Phenotype, 529, 980 (E)
Variant, 320
Phenotype/genotype correlations, NF2, 331
Phenylalanine hydroxylase, 84
Phenylketonuria (PKU), 84
Phosphofructokinase, 59
Phylogenetic analysis, 248 (L)
Phylogenetic relationship, 579
Physical mapping, 1288, 1297, 1328
PKU (phenylketonuria), 84
Polymorphism(s), 159, 360, 912
Spectrin, 351
Polynesian-Amerindian contact, 253 (L)
Polynesians, 253 (L), 256 (L)
Polyposis, familial adenomatous, 1193

1430

Population(s), 256 (L), 879


African, 1040
Amish, 1006
Arab, 1012
Brazilian, 1040
East Asian, 579
European, 185, 1363
French Canadian, 633
Genetics, 213, 1243
Hispanic, 269 (L), 271 (L)
Indo-European, 927
Japanese, 343, 579
Jewish, 603, 1012, 1126
Native American, 253 (L), 256 (L), 368, 935
Norwegian, 486 (L)
Polynesian, 253 (L), 256 (L)
Punjabi, 927
Screening, 234
Spread, 964 (L)
Structure, 983 (E)
Studies, 159
Substructure, 272 (L)
Swedish, 59
Yanomami, 213
Position effect, 23
Positional cloning, 764 (R)
Postzygotic nondisjunction, 268 (L), 1397 (L)
Prader-Willi, 423
Pre-Caucasoid, 927
Preferential transmission of CTG alleles, 109
Premature coronary-artery disease, 1262
Premature termination, 799
Prenatal diagnosis, 234, 793, 918
Prenatal screening, 234
Presymptomatic testing, 968 (L)
Proband, 726
Proinsulin, 694
Prolidase, 1035
Promoter mutation, 308
Protein-truncation test (PTT), 40, 736 (L), 818, 962 (L)
Proteolipid protein gene, 12 (E)
Pseudoautosomal region, 103
Pseudodominant pedigrees, 1163 (L)
Pseudogene, 343, 740 (L)
Pseudolikelihood, 726
Pseudo-vitamin D-deficiency rickets, 633
Psychiatric illness, linkage studies, 644
Pulmonary disease, 45
Punjab, 927
Pyropoikilocytosis, 351

Qualitative trait(s), 1376


Loci, 951, 1382
Radiation

Subject Index for Volume 59

Hybrid, 717
Sensitivity, 839
Random model, 1382
Recombination, 740 (L), 1186
Rate, 1175 (E)
Regressive models, 453
Repetitive sequences, nucleic acid, 252 (L)
Replication, 423
Timing, 407
Reproductive failure, 1114
Retina, 864
Retinal dystrophy, 152
Retinal hamartoma, 529
Retinitis pigmentosa, 152, 864, 1074
Retinoblastoma, 301, 1084
Reunion paradox, 1400 (L)
Reverse mutation, 540
Reverse transcriptase-PCR (RT-PCR), 40, 818
RFLP, 1084

Rh
Antigens, 825
Blood group, 1066
RH locus, 825
Rhabdomyoma, 400

Rheumatoid arthritis, 676


Rickets, 633
Rieger syndrome, 613, 1288, 1297
RNA

Degradation, 279 (E)


Splicing, 279 (E)
RNA-binding proteins, 561
Robertsonian translocation, 167
RP3, 152
RP11, 864
Satellite III DNA, 167
SCA7, 1328
Schistosomiasis, 453
Schizophrenia, 731 (L), 905, 912
SCOT (succinyl CoA: 3-oxoacid CoA transferase), 519
Screening, genetic, 234, 287 (E), 301, 762 (E)
Segregation, 1276
Analysis, 453, 664, 684
Distortion, 896
Seizure, 400

Selection, 717
Sequence diversity, 437
Sequence polymorphism, 1363
Sequence-tagged sites-PCR, 1393 (L)
Seratonin receptor, 1084
Serpins, 308
Sex ratio, 1108
Sib pairs, 485 (L), 1149, 1376
Analysis, 951
Siberia, 1167 (L)

1431

Subject Index for Volume 59

Simulations, 1097
Simultaneous search, 377
Sinai, 741 (L)
Skeletal muscle, 591
Skin rash, 1097
SMN gene, 834, 1057
Deletions, 1163 (L)
Somatic mosaic, 1027
Southwestern United States, 269 (L)
Spectrin, 351
Sperm, 896, 1108
Typing, 1186
Spielman transmission-disequilibrium test, 644
Spinal muscular atrophy, 834, 1057, 1163 (L)
Spinocerebellar ataxia, 16, 119, 392, 731 (L), 1328
Type 7, 1328
Splice site(s), 1262
Mutation, 1210
Splicing mutations, 292, 320, 1391 (L)
Spongy degeneration, 95
Sporadic amyotrophic lateral sclerosis, 1165 (L)
Sporadic breast cancer, 962 (L)
SSCP, 839
Subsistence patterns, 437
Succinyl CoA: 3-oxoacid CoA transferase (SCOT), 519
Sulfonylurea receptor, 510
Superoxide dismutase, 1165 (L)
Susceptibility, 676
Genetic, 547
Locus, 653
Swedish, 59
Tarui disease, 59
Tay-Sachs disease, 52, 762 (E), 793
TDT (transmission-disequilibrium test), 644, 676, 743
(L), 744 (L), 983 (E)
Telangiectasia, 320
Testing, genetic, 287 (E), 471 (ASHG), 968 (L), 1169
(L), 1170 (L)
The Bell Curve, 487 (L)
Thiazide sensitivity, 1019
Thrombosis, 262 (L)
Tic disorders, 644
Tissue specificity, 561
Tourette syndrome, 644, 684, 980 (E), 999
Transcriptional polarity, 407
Transfection, 76
Translocation(s), 980 (E), 1297
Balanced, 7 (E), 999
Robertsonian, 167

Transmission-disequilibrium test (TDT), 644, 676, 743


(L), 744 (L), 983 (E)
Trinucleotide(s), 731 (L), 990
Deletion, 475 (L)
Repeat(s), 1 (E), 16, 109, 119, 478 (L), 847, 905,
912, 973 (E), 1252
Expansion-detection techniques, 905
Triplet disease, 554
Triplet repeats, 407, 1168 (L)
Trisomy, 176
Trisomy 21, 268 (L), 1395 (L), 1397 (L)
Truncating mutation, 962 (L)
Tuberous sclerosis, 400
Tumor necrosis factor-lymphotoxin, 676
Tumor-suppressor gene, 400
Twins, 1276
Type IV collagen, 1221
Typing error, 946
Ulcerative colitis, 226
Unequal crossover, 343, 958 (L)
Unequal rearrangement, 1057
Uniparental disomy, 423, 431
United States, 84
Unstable DNA mutation, 905
Untranslated RNA, 23
Usher syndrome type 1B, 1074
Uveitis, 1097
Variation, genetic, 1175 (E)
Vascular disease, 262 (L)
Visual loss susceptibility locus, 103
VNTR loci, 272 (L)

Waardenburg syndrome type 2A, 76


White gene, 66
Williams syndrome, 756 (E), 781, 958 (L)
Wolfram syndrome, 855
X chromosome, 152
Inactivation, 103, 887, 1091
X-linked disease(s), 32, 103

Y chromosome, 741 (L), 964 (L), 1126, 1393 (L)


YAC, 603, 980 (E), 999
YAC fragmentation, 1297
Yanomami, 213
Younger Dryas, 935

Zellweger syndrome, 1210

THE AMERICAN JOURNAL OF HUMAN GENETICS


EDITOR
Peter H. Byers, M.D.
University of Washington
School of Medicine
Seattle, WA

MANAGING EDITOR

ASSISTANT MANAGING EDITOR

Roberta Wilkes
University of Washington
Seattle, WA

Patricia Baskin
University of Washington
Seattle, WA

ASSOCIATE EDITORS
Anne M. Bowcock, Ph.D.
University of Texas Southwestern
Medical Center
Dallas, TX

Thomas W. Glover, Ph.D.


University of Michigan
Ann Arbor, Ml
Markus Grompe, M.D.
Oregon Health Sciences
University

Mary-Claire King, Ph.D.


University of Washington
Seattle, WA

Roberta A. Pagon, M.D.


University of Washington
Seattle, WA

James R. Lupski, M.D., Ph.D.

Barbara J. Trask, Ph.D.

Baylor College of Medicine


Houston, TX

Roderick R. McInnes, M.D., Ph.D.


The Hospital for Sick Children
Toronto, Ontario

Portland, OR
Kenneth Morgan, Ph.D.
McGill University
Montreal, Quebec

Lynn Jorde, Ph.D.


University of Utah

School of Medicine
Salt Lake City, UT

University of Washington
Seattle, WA
James L. Weber, Ph.D.
Marshfield Medical Research
Foundation
Marshfield, WI

Daniel E. Weeks, Ph.D.


University of Pittsburgh
Pittsburgh, PA
The Wellcome Trust Centre for
Human Genetics
Oxford

Volume 59
1996
Published Monthly for
THE AMERICAN SOCIETY OF HUMAN GENETICS
BY THE UNIVERSITY OF CHICAGO PRESS

THE AMERICAN SOCIETY OF HUMAN GENETICS


BOARD OF DIRECTORS
President

President 1994

Secretary

Charles J. Epstein, M.D.


University of California, San
Francisco
San Francisco, CA

Ann C. M. Smith, M.A.


Georgetown University
Washington, DC

Maimon M. Cohen, Ph.D.


University of Maryland School of
Medicine
Baltimore, MD

President-Elect

President 1995

Treasurer

Larry J. Shapiro, M.D.


University of California School of

Medicine
San Francisco, CA

Stephen 1. Goodman, M.D.


University of Colorado Health

Judith G. Hall, M.D.


University of British Columbia

Sciences Center
Denver, CO

Vancouver, BC

Editor

Peter H. Byers, M.D.


University of Washington
School of Medicine
Seattle, WA
Directors

Michael R. Hayden, M.D., Ph.D.


University of British Columbia

Diane Baker, M.S.


University of Michigan
Ann Arbor, Ml

Vancouver, BC

Aravinda Chakravarti, Ph.D.


Case Western Reserve University
School of Medicine
Cleveland, OH

Jeffrey C. Murray, M.D.


University of Iowa

Thomas D. Gelehrter, M.D.


University of Michigan Medical
School
Ann Arbor, Ml

Philip R. Reilly, M.D., J.D.


Shriver Center for Mental
Retardation, Inc.
Waltham, MA

Iowa City, IA

Stephanie Sherman, Ph.D.


Emory University School of
Medicine
Atlanta, GA
Huntington F. Willard, Ph.D.
Case Western Reserve University

School of Medicine
Cleveland, OH
Savio L. C. Woo, Ph.D.
Baylor College of Medicine
Houston, TX

1996 by The American Society of Human Genetics

Contents of Volume 59
July 1996
Invited Editorials
1 Huntington Disease-Another Chapter Rewritten
Martha A. Nance

7 How Many Breaks Do We Need to CATCH on 22q1 1?


Bruno Dallapiccola, Antonio Pizzuti, and Giuseppe Novelli
12 The Proteolipid Protein Gene: Double, Double,. . . and Trouble
M. E. Hodes and S. R. Dlouhy

Original Articles
16 Phenotypic Characterization of Individuals with 30-40 CAG Repeats in the Huntington Disease (HD)
Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36-39 Repeats
David C. Rubinsztein, Jayne Leggo, Rhian Coles, Elisabeth Almqvist, Valerie Biancalana, Jean-Jacques Cassiman,
Kokila Chotai, Margaret Connarty, David Craufurd, Anne Curtis, Diana Curtis, Mark J. Davidson, Anne-Marie Differ,
Catherine Dode, Alan Dodge, Marina Frontali, Neal G. Ranen, 0. Colin Stine, Meeia Sherr, Margaret H. Abbott, Mary
L. Franz, Colin A Graham, Peter S. Harper, John C. Hedreen, Anthony Jackson, Jean-Claude Kaplan, Monique
Losekoot, John C. MacMillan, Patrick Morrison, Yvon Trottier, Andrea Novelletto, Sheila A. Simpson, Jane Theilmann,
Joanne L. Whittaker, Susan E. Folstein, Christopher A. Ross, and Michael R. Hayden
23 Identification of a Novel Transcript Disrupted by a Balanced Translocation Associated with DiGeorge

Syndrome
Helen F. Sutherland, Roy Wadey, Judith M. McKie, Catherine Taylor, Uzma Atif, Karen A. Johnstone, Stephanie
Halford, Ung-Jin Kim, Judith Goodship, Antonio Baldini, and Peter J. Scambler
32 A Duplicated PLP Gene Causing Pelizaeus-Merzbacher Disease Detected by Comparative Multiplex PCR
Ken Inoue, Hitoshi Osaka, Naoya Sugiyama, Chiaki Kawanishi, Hideki Onishi, Atsuo Nezu, Kazue Kimura, Seiji
Kimura, Yoshiteru Yamada, and Kenji Kosaka
40 Ataxia-Telangiectasia: Mutations in ATM cDNA Detected by Protein-Truncation Screening
Milhan Telatar, Zhijun Wang, Nitin Udar, Teresa Liang, Eva Bernatowska-Matuszkiewicz, Martin Lavin, Yosef Shiloh,
Patrick Concannon, Robert A. Good, and Richard A. Gatti

45 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutations in Allergic

Bronchopulmonary Aspergillosis
Patrice Weiner Miller, Ada Hamosh, Milan Macek, Jr., Paul A. Greenberger, James MacLean, Sandra M. Walden,
Raymond G. Slavin, and Garry R. Cutting

Val'92Leu Mutation in the a-Subunit of P-Hexosaminidase A Is Not Associated with the B1 -Variant
Form of Tay-Sachs Disease

52 The

Yongmin Hou, George Vavougios, Aleksander Hinek, Kui Kui Wu, Peter Hechtman, Feige Kaplan, and Don J.

Mahuran
59 Glycogenosis Type VII (Tarui Disease) in a Swedish Family: Two Novel Mutations in Muscle
Phosphofructokinase Gene (PFK-M) Resulting in Intron Retentions
Ralph C. Nichols, Olle Rudolphi, Borje Ek, Rachel Exelbert, Paul H. Plotz, and Nina Raben

1435

1436

Contents of Volume 59

66 Cloning of the cDNA for a Human Homologue of the Drosophila White Gene and Mapping to
Chromosome 21q22.3
Haiming Chen, Colette Rossier, Maria D. Lalioti, Audrey Lynn, Aravinda Chakravarti, Gaelle Perrin, and Stylianos E.
Antonarakis

76 Analyses of Loss-of-Function Mutations of the MITF Gene Suggest That Haploinsufficiency Is a Cause of
Waardenburg Syndrome Type 2A
Yoshitaka Nobukuni, Atsushi Watanabe, Kazushisa Takeda, Hana Skarka, and Masayoshi Tachibana
84 Phenylalanine Hydroxylase Gene Mutations in the United States: Report from the Maternal PKU

Collaborative Study
Per Guldberg, Harvey L. Levy, William B. Hanley, Richard Koch, Reuben Matalon, Bobbye M. Rouse, Friedrich Trefz,
Felix de la Cruz, Karen Friis Henriksen, and Flemming Guttler

95 Identification and Expression of Eight Novel Mutations among Non-Jewish Patients with Canavan Disease
Rajinder Kaul, Guang P. Gao, Reuben Matalon, Maria Aloya, Quin Su, Mei Jin, Anne B. Johnson, Ruud B. H.
Schutgens, and J. T. R. Clarke
103 Evidence against an X-Linked Visual Loss Susceptibility Locus in Leber Hereditary Optic Neuropathy
R. M. Chalmers, M. B. Davis, M. G. Sweeney, N. W. Wood, and A. E. Harding

109 Segregation Distortion of the CTG Repeats at the Myotonic Dystrophy Locus
Ranajit Chakraborty, David N. Stivers, Ranjan Deka, Ling M. Yu, Mark D. Shriver, and Robert E. Ferrell
119 A Familial Factor Independent of CAG Repeat Length Influences Age at Onset of Machado-Joseph

Disease
Anita L. DeStefano, L. Adrienne Cupples, Patricia Maciel, Claudia Gaspar, Joao Radvany, David M. Dawson, Lewis
Sudarsky, Lee Corwin, Paula Coutinho, Patrick MacLeod, Jorge Sequeiros, Guy A. Rouleau, and Lindsay A. Farrer

128 Chronic Hepatitis B Carriers with Null Genotypes of Glutathione S-Transferase Ml and Ti
Polymorphisms Who Are Exposed to Aflatoxin Are at Increased Risk of Hepatocellular Carcinoma
Chien-Jen Chen, Ming-Whei Yu, Yun-Fan Liaw, Lian-Wen Wang, Sinnabhatr Chiamprasert, Farhan Matin, Ari
Hirvonen, Douglas A. Bell, and Regina M. Santella
135 A Gene for Familial Paroxysmal Dyskinesia (FPD1) Maps to Chromosome 2q
Gameil T. Fouad, Serenella Servidei, Simon Durcan, Enrico Bertini, and Louis J. PtN&ek
140 Paroxysmal Dystonic Choreoathetosis: Tight Linkage to Chromosome 2q
John K. Fink, Shirley Rainier, Jodi Wilkowski, Sandra M. Jones, Akito Kume, Peter Hedera, Roger Albin, Joan Mathay,
Lynette Girbach, Tena Varvil, Brith Otterud, and Mark Leppert
146 Osteoporosis-Pseudoglioma Syndrome, a Disorder Affecting Skeletal Strength and Vision, Is Assigned to

Chromosome Region 11ql2-13


Yaoqin Gong, Miikka Vikkula, Laurence Boon, Jin Liu, Peter Beighton, Raj Ramesar, Leena Peltonen, Hannu Somer,
Tatsuo Hirose, Bruno Dallapiccola, Anne De Paepe, Walter Swoboda, Bernhard Zabel, Andrea Superti-Furga, Beat
Steinmann, Han G. Brunner, Ab Jans, Richard G. Boles, William Adkins, Marie-Jose van den Boogaard, Bjorn R.
Olsen, and Matthew L. Warman

152 A Recombination Outside the BB Deletion Refines the Location of the X-Linked Retinitis Pigmentosa
Locus RP3
Ricardo Fujita, Eve Bingham, Patricia Forsythe, Christina McHenry, Vincent Aita, Bradford A. Navia, Katherine Dry,
Meridee Segal, Marcella Devoto, Gail Bruns, Alan F. Wright, Jurg Ott, Paul A. Sieving, and Anand Swaroop

Contents of Volume 59

1437

159 Genotyping of PCR-Based Polymorphisms and Linkage-Disequilibrium Analysis at the NF1 Locus
S. M. Purandare, R. Cawthon, L. M. Nelson, S. Sawada, W. S. Watkins, K. Ward, L. B. Jorde, and D. H. Viskochil
167 Evidence for Structural Heterogeneity from Molecular Cytogenetic Analysis of Dicentric Robertsonian

Translocations
Beth A. Sullivan, Lauren S. Jenkins, Evelyn M. Karson, Julie Leana-Cox, and Stuart Schwartz
176 Association between Nondisjunction and Maternal Age in Meiosis-lI Human Oocytes
Theresa Dailey, Brian Dale, Jacques Cohen, and Santiago Munne
185 Paleolithic and Neolithic Lineages in the European Mitochondrial Gene Pool
Martin Richards, Helena Corte-Real, Peter Forster, Vincent Macaulay, Hilde Wilkinson-Herbots, Andrew Demaine,
Surinda Papiha, Robert Hedges, Hans-Jurgen Bandelt, and Bryan Sykes

204 mtDNA Variation- Indicates Mongolia May Have Been the Source for the Founding Population for the
New World
D. Andrew Merriwether, William W. Hall, Anders Vahlne, and Robert E. Ferrell
213 mtDNA Variation in the Yanomami: Evidence for Additional New World Founding Lineages
Ruth D. Easton, D. Andrew Merriwether, Douglas E. Crews, and Robert E. Ferrell
226 Analysis of the Contribution of HLA Genes to Genetic Predisposition in Inflammatory Bowel Disease
Isam Naom, John Lee, Deborah Ford, Simon J. Bowman, Jerry S. Lanchbury, Iftekhar Haris, Shirley V. Hodgson,
Douglas Easton, John Lennard-Jones, and Christopher G. Mathew
234 Cystic Fibrosis Carrier Population Screening in the Primary Care Setting
S. Loader, P. Caldwell, A. Kozyra, J. C. Levenkron, C. D. Boehm, H. H. Kazazian, Jr., and Peter T. Rowley

Letters to the Editor


248 Detection of the mtDNA 14484 Mutation on an African-Specific Haplotype: Implications about Its Role

in Causing Leber Hereditary Optic Neuropathy


Antonio Torroni, Valerio Carelli, Maurizio Petrozzi, Michela Terracina, Piero Barboni, Paola Malpassi, Douglas C.
Wallace, and Rosaria Scozzari

252 On the Formation of Nucleosomes within the FMR1 Trinucleotide Repeat


Stan Metzenberg

253 Lack of Ancient Polynesian-Amerindian Contact


Sandro L. Bonatto, Alan J. Redd, Francisco M. Salzano, and Mark Stoneking
256 Mitochondrial Myopia: Reply to Bonatto et al.
R. L. Cann and J. K. Lum
258 Misclassification and Linkage of Hereditary Sensory and Autonomic Neuropathy Type 1 as CharcotMarie-Tooth Disease, Type 2B
Jeffery M. Vance, Marcy C. Speer, Jeffrey M. Stajich, Sandra West, Chantelle Wolpert, Pete Gaskell, Felicia Lennon,
Richard M. Tim, Marvin Rozear, Kamel Ben Othmane, and Margaret A. Pericak-Vance
260 Reply to Vance et al.
Woon-Chee Yee, Jeffrey L. Elliott, Jennifer M. Kwon, and Paul Goodfellow

1438

Contents of Volume 59

262 Elevated Total Plasma Homocysteine and 677C-T Mutation of the 5,10-Methylenetetrahydrofolate
Reductase Gene in Thrombotic Vascular Disease
Raffaella de Franchis, Francesco P. Mancini, Armando D'Angelo, Gianfranco Sebastio, Isabella Fermo, Valentino De
Stefano, Maurizio Margaglione, Giuseppina Mazzola, Giovanni di Minno, and Generoso Andria
264 Evidence for Genetic Anticipation in Non-Mendelian Diseases
Andrew D. Paterson, James L. Kennedy, and Arturas Petronis

268 When Does Maternal Age-Dependent Trisomy 21 Arise Relative to Meiosis?


Chang-Jiang Zheng and Breck Byers
269 A Rational Approach to Cystic Fibrosis Mutation Analysis in Hispanics: Reply to Arzimanoglou et al.
Theresa A. Grebe, Winifred W. Doane, Sarah F. Richter, William K. Seltzer, and Karen D. Jain
271 Reply to Grebe et al.
lordanis 1. Arzimanoglou and Fred Gilbert
272 DNA Fingerprinting Loci Do Show Population Differences: Comments on Budowle et al.
Stanley Sawyer, Ann Podleski, Dan Krane, and Daniel Hartl

Announcements
275 Employment Opportunities; Meetings; Call for Cell Cultures

Errata
277 Limits on Fine Mapping of Complex Traits, by Kruglyak and Lander (May 1996 [58:1092-1093])
277 An Ancient Common Origin of Aboriginal Australians and New Guinea Highlanders Is Supported by aGlobin Haplotype Analysis, by Roberts-Thomson et al. (May 1996 [58:1017-1024])

Information for Contributors

August 1996
Invited Editorials
279 Defects in RNA Splicing and the Consequence of Shortened Translational Reading Frames
Lynne E. Maquat

287 Genetic Tests: A Search for Economy of Scale


Bruce Hillner
289 Detection of Unknown Mutations in DNA: A Catch-22
Richard G. H. Cotton

Original Articles
Collagen Type Vill Gene (COL7A1) of a Patient Affected
by the Localisata Variant of Recessive Dystrophic Epidermolysis Bullosa

292 Identification of Two Splicing Mutations in the

Rita Gardella, Laura Belletti, Nicoletta Zoppi, Dario Marini, Sergio Barlati, and Marina Colombi

Contents of Volume 59

1439

301 Cost Comparison of Molecular versus Conventional Screening of Relatives at Risk for Retinoblastoma
Hussein Z. Noorani, Hamza N. Khan, Brenda L. Gallie, and Allan S. Detsky
308 Exhaustive Mutation Scanning by Fluorescence-Assisted Mismatch Analysis Discloses New

Genotype-Phenotype Correlations in Angioedema


Elisabeth Verpy, Michel Biasotto, Melchiorre Brai, Gabriella Misiano, Tommaso Meo, and Mario Tosi

320 Mutations Associated with Variant Phenotypes in Ataxia-Telangiectasia


Carmel M. McConville, Tatjana Stankovic, Philip J. Byrd, Germaine M. McGuire, Qing-Yun Yao, Graham G. Lennox,
and A. Malcolm R. Taylor
331 Type of Mutation in the Neurofibromatosis Type 2 Gene (NF2) Frequently Determines Severity

of Disease
Martin H. Ruttledge, Anne A. Andermann, Catherine M. Phelan, Jaime 0. Claudio, Fei-yu Han, Nathalie Chretien,
Shyam Rangaratnam, Mia MacCollin, Priscilla Short, Dilys Parry, Virginia Michels, Vincent M. Riccardi, Rosanna
Weksberg, Ken Kitamura, Joyce M. Bradburn, Bryan D. Hall, Peter Propping, and Guy A. Rouleau

343 Molecular Basis for Secretor Type a(1,2)-Fucosyltransferase Gene Deficiency in a Japanese Population:
A Fusion Gene Generated by Unequal Crossover Responsible for the Enzyme Deficiency
Yoshiro Koda, Mikiko Soejima, Yuhua Liu, and Hiroshi Kimura

351 Molecular Basis and Haplotyping of the all Domain Polymorphisms of Spectrin: Application to the Study

of Hereditary Elliptocytosis and Pyropoikilocytosis


Patrick G. Gallagher, Leszek Kotula, Yongping Wang, Sally L. Marchesi, Peter J. Curtis, David W. Speicher, and
Bernard G. Forget

360 Mutation Rate in the Hypervariable VNTR g3 (D7S22) Is Affected by Allele Length and a Flanking DNA
Sequence Polymorphism near the Repeat Array
Rune Andreassen, Thore Egeland, and Bj0rnar Olaisen
368 The Retrieval of Ancient Human DNA Sequences
Oliva Handt, Matthias Krings, R. H. Ward, and Svante Paabo

377 A Locus for Fanconi Anemia on 16q Determined by Homozygosity Mapping


Michele Gschwend, Orna Levran, Leonid Kruglyak, Koustubh Ranade, Peter C. Verlander, Susan Shen, Sabine Faure,
Jean Weissenbach, Cigdem Altay, Eric S. Lander, Arleen D. Auerbach, and David Botstein
385 An Autosomal Recessive Nonsyndromic-Hearing-Loss Locus Identified by DNA Pooling Using Two Inbred

Bedouin Kindreds
Daryl A. Scott, Rivka Carmi, Khalil Elbedour, Sagi Yosefsberg, Edwin M. Stone, and Val C. Sheffield

392 Autosomal Dominant Spinocerebellar Ataxia with Sensory Axonal Neuropathy (SCA4):
Clinical Description and Genetic Localization to Chromosome 16q22.1
K. Flanigan, K. Gardner, K. Alderson, B. Galster, B. Otterud, M. F. Leppert, C. Kaplan, and L. J. Ptacek

400 Allelic Loss Is Frequent in Tuberous Sclerosis Kidney Lesions but Rare in Brain Lesions
Elizabeth Petri Henske, Bernd W. Scheithauer, M. Priscilla Short, Robert Wollmann, Joseph Nahmias, Nick Hornigold,
Marjon van Slegtenhorst, Cynthia T. Welsh, and David J. Kwiatkowski
407 Large Domains of Apparent Delayed Replication Timing Associated with Triplet Repeat Expansion at
FRAXA and FRAXE
Prem S. Subramanian, David L. Nelson, and A. Craig Chinault
417 Molecular Analysis of Chromosome 9q Deletions in Two Gorlin Syndrome Patients
Richard Shimkets, Mae R. Gailani, Victoria M. Siu, Theresa Yang-Feng, Carolyn L. Pressman, Sonja Levanat, Alisa
Goldstein, Michael Dean, and Allen E. Bale

Contents of Volume 59

1440

423 Allele-Specific Replication of 15q1 1 -qi 3 Loci: A Diagnostic Test for Detection of Uniparental Disomy
Lisa M. White, Peter K. Rogan, Robert D. Nicholls, Bai-Lin Wu, Bruce Korf, and Joan H. M. Knoll

431 Complete Paternal Isodisomy for Chromosome 8 Unmasked by Lipoprotein Lipase Deficiency
Pascale Benlian, Luc Foubert, Eric Gagne, Lynn Bernard, Jean Luc De Gennes, Sylvie Langlois, Wendy Robinson, and
Michael Hayden

437 mtDNA Sequence Diversity in Africa


Elizabeth Watson, Karin Bauer, Rashid Aman, Gunter Weiss, Arndt von Haeseler, and Svante Paabo
445 Founder Effect and the Prevalence of Myotonic Dystrophy in South Africans: Molecular Studies
Andrea Goldman, Amanda Krause, Michele Ramsay, and Trefor Jenkins
453 Segregation Analysis Indicates a Major Gene in the Control of Interleukine-5 Production in Humans

Infected with Schistosoma mansoni


Virmondes Rodrigues, Jr., Laurent Abel, Karen Piper, and Alain J. Dessein

462 The Immunoglobulin Heavy-Chain Variable Region in Insulin-Dependent Diabetes Mellitus:

Affected-Sib-Pair Analysis and Association Studies


Riitta Veijola, Mikael Knip, Raija Puukka, Helena Reijonen, Diane W. Cox, and Jorma Ilonen

ASHG Report
471 Statement on Informed Consent for Genetic Research
The American Society of Human Genetics

Letters to the Editor


475 Errors in Huntington Disease Diagnostic Test Caused by Trinucleotide Deletion in the IT15 Gene
Cinzia Gellera, Cesare Meoni, Barbara Castellotti, Boris Zappacosta, Floriano Girotti, Franco Taroni, and Stefano
Di Donato

477 Submicroscopic Deletions Are Rare in Alagille Syndrome


F. Deleuze and M. Hadchouel

477 Reply to Deleuze and Hadchouel


Elizabeth B. Rand and Rebecca Taub
478 The Molecular Basis of Fragile Sites
Carl Dobkin, Nan Zhong, and W. Ted Brown
479 Segregation of Two BRCA1 Mutations in a Single Family
D. Stoppa-Lyonnet, J. P. Fricker, L. Essioux, S. Pages, J. M. Limacher, H. Sobol, P. Laurent-Puig, and G. Thomas
481 Primary Pathogenic mtDNA Mutations in Multigeneration Pedigrees with Leber Hereditary Optic

Neuropathy
David A. Mackey, Roelof-Jan Oostra, Thomas Rosenberg, Eeva Nikoskelainen, Joan Bronte-Stewart, Joanna Poulton,
Anita E. Harding, Gregor Govan, Pieter A. Bolhuis, Soren Norby, Elisabeth M. Bleeker-Wagemakers, Marja-Liisa
Savontaus, Christopher Chan, and Neil Howell

485 Even a Deficit of Shared Marker Alleles in Affected Sib Pairs Can Yield Evidence for Linkage
Michael Knapp

486 A Common BRCA1 Mutation in Norwegian Breast and Ovarian Cancer Families?
Tone Ikdahl Andersen, Anne-Lise B0rresen, and Pal Moller

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Contents of Volume 59

487 The Bell Curve: Statement by the NIH-DOE Joint Working Group on the Ethical, Legal, and Social
Implications of Human Genome Research
A. Allen, B. Anderson, L. Andrews, J. Beckwith, J. Bowman, R. Cook-Deegan, D. Cox, T. Duster, R. Eisenberg
(abstained), B. Fine, N. Holtzman, P. King, P. Kitcher, J. McInerney, V. McKusick, J. Mulvihill, J. Murray, R. Murray, T.
Murray, D. Nelkin, R. Rapp, M. Saxton, and N. Wexler

Announcements
489 Employment Opportunities; Symposia; Conferences; Cell Cultures; Human Gene Mutation Database

Erratum
492 Cystic Fibrosis Carrier Screening in Hispanics, by Arzimanoglou et al. (February 1995 [56:544-547])

Information for Contributors

September 1996
i This Month in the Journal
John Ashkenas

Invited Editorials
493 Mutational Hot Spots in the Mitochondrial Microcosm
Svante Paabo

497 The Second National Research Council Report on Forensic DNA Evidence
Bruce S. Weir

Original Articles
501 How Rapidly Does the Human Mitochondrial Genome Evolve?
Neil Howell, Iwona Kubacka, and David A. Mackey
510 Inactivation of the First Nucleotide-Binding Fold of the Sulfonylurea Receptor, and Familial Persistent

Hyperinsulinemic Hypoglycemia of Infancy


Pamela M. Thomas, Nelson Wohilk, Eileen Huang, Ursula Kuhnle, Wolfgang Rabl, Robert F. Gagel, Gilbert J. Cote

519 Succinyl CoA: 3-Oxoacid CoA Transferase (SCOT): Human cDNA Cloning, Human Chromosomal
Mapping to 5pl 3, and Mutation Detection in a SCOT-Deficient Patient
Sacha Kassovska-Bratinova, Toshiyuki Fukao, Xiang-Qian Song, Alessandra M. V. Duncan, Hai Shiene Chen,
Marie-France Robert, Celia Perez-Cerda, Magdalena Ugarte, Claude Chartrand, Suzanne Vobecky, Naomi Kondo,
and Grant A. Mitchell
529 Germ-Line Mutations in the Neurofibromatosis 2 Gene: Correlations with Disease Severity and Retinal

Abnormalities
Dilys M. Parry, Mia M. MacCollin, Muriel 1. Kaiser-Kupfer, Karen Pulaski, H. Stacy Nicholson, Monica Bolesta,
Roswell Eldridge, and James F. Gusella
540 Decrease in the CGGN Trinucleotide Repeat Mutation of the Fragile X Syndrome to Normal Size Range

during Paternal Transmission


Marja-Leena Vaisanen, Ritva Haataja, and Jaakko Leisti

1442

Contents of Volume 59

547 Genetic Heterogeneity in Hereditary Breast Cancer: Role of BRCA 1 and BRCA2
T. R. Rebbeck, F. J. Couch, J. Kant, K. Calzone, M. DeShano, Y. Peng, K. Chen, J. E. Garber, and B. L. Weber

554 The Relationship between Trinucleotide (GAA) Repeat Length and Clinical Features in Friedreich Ataxia
Alessandro Filla, Giuseppe De Michele, Francesca Cavalcanti, Luigi Pianese, Antonella Monticelli, Giuseppe
Campanella, and Sergio Cocozza
561 CAG Trinucleotide RNA Repeats Interact with RNA-Binding Proteins
Beth Ann McLaughlin, Corinne Spencer, and James Eberwine
570 Polymorphism in the Interferon-a Gene Family
Irina Golovleva, Martyna Kandefer-Szerszen, Lars Beckman, and Erik Lundgren
579 mtDNA Polymorphism in East Asian Populations, with Special Reference to the Peopling of Japan
Satoshi Horai, Kumiko Murayama, Kenji Hayasaka, Satoe Matsubayashi, Yuko Hattori, Goonnapa Fucharoen, Shinji
Harihara, Kyung Sook Park, Keiichi Omoto, and I-Hung Pan
591 Evidence That Specific mtDNA Point Mutations May Not Accumulate in Skeletal Muscle during Normal
Human Aging
Francesco Pallotti, Xi Chen, Eduardo Bonilla, and Eric A. Schon

603 Localization of the Familial Mediterranean Fever Gene (FMF) to a 250-kb Interval in Non-Ashkenazi

Jewish Founder Haplotypes


The French FMF Consortium

613 A Second Locus for Rieger Syndrome Maps to Chromosome 1 3q14


Jeffrey C. Phillips, Elizabeth A. Del Bono, Jonathan L. Haines, Anca Madalina Pralea, John S. Cohen, Linda J. Greff,
and Janey L. Wiggs
620 Homozygosity Mapping of the Gene for Chediak-Higashi Syndrome to Chromosome 1q42-q44 in a
Segment of Conserved Synteny That Includes the Mouse beige Locus (bg)
Kazuyoshi Fukai, Jangsuk Oh, Mohammad A. Karim, Karen J. Moore, Hesham H. Kandil, Hiroshi Ito, Joachim Burger,
and Richard A. Spritz
625 Genetic and Physical Mapping of the Chediak-Higashi Syndrome on Chromosome 1q42-43
Franck J. Barrat, Laurence Auloge, Elodie Pastural, Remi Dufourcq Lagelouse, Etienne Vilmer, Andrew J. Cant, Jean
Weissenbach, Denis Le Paslier, Alain Fischer, and Genevieve de Saint Basile
633 Linkage Disequilibrium Analysis in Young Populations: Pseudo-Vitamin D-Deficiency Rickets and the

Founder Effect in French Canadians


Malgorzata Labuda, Damian Labuda, Maria Korab-Laskowska, David E. C. Cole, Ewa Zietkiewicz, Jean Weissenbach,
Ewa Popowska, Ewa Pronicka, Allen W. Root, and Francis H. Glorieux

644 Linkage Disequilibrium between an Allele at the Dopamine D4 Receptor Locus and Tourette Syndrome,

by the Transmission-Disequilibrium Test


D. E. Grice, J. F. Leckman, D. L. Pauls, R. Kurlan, K. K. Kidd, A. J. Pakstis, F. M. Chang, J. D. Buxbaum, D. J. Cohen,
and J. Gelernter

653 Linkage Analysis of Juvenile Myoclonic Epilepsy and Microsatellite Loci Spanning 61 cM of Human
Chromosome 6p in 19 Nuclear Pedigrees Provides No Evidence for a Susceptibility Locus in This Region
F. V. Elmslie, M. P. Williamson, M. Rees, M. Kerr, M. J. Kjeldsen, K. A. Pang, A. Sundqvist, M. L. Friis, A. Richens,
D. Chadwick, W. P. Whitehouse, and R. M. Gardiner

Contents of Volume 59

1443

664 Evidence for Major Gene Inheritance of Alzheimer Disease in Families of Patients With and Without
Apolipoprotein E 4
Valluri S. Rao, L. Adrienne Cupples, Cornelia M. van Duijn, Alexander Kurz, Robert C. Green, Helena Chui, Ranjan
Duara, Sanford A. Auerbach, Ladislav Volicer, John Wells, Christine van Broeckhoven, John H. Growdon, Jonathan L.
Haines, and Lindsay A. Farrer
676 Genetic Variability in the Tumor Necrosis Factor-Lymphotoxin Region Influences Susceptibility to

Rheumatoid Arthritis
B. Mulcahy, F. Waldron-Lynch, M. F. McDermott, C. Adams, C. 1. Amos, D. K. Zhu, R. H. Ward, D. 0. Clegg,
F. Shanahan, M. G. Molloy, and F. O'Gara

684 Family Study and Segregation Analysis of Tourette Syndrome: Evidence for a Mixed Model of Inheritance
John T. Walkup, Michele C. LaBuda, Harvey S. Singer, Janice Brown, Mark A. Riddle, and Orest Hurko
694 Quantitative Variation in Obesity-Related Traits and Insulin Precursors Linked to the OB Gene Region on
Human Chromosome 7
Ravindranath Duggirala, Michael P. Stern, Braxton D. Mitchell, Laurie J. Reinhart, Patricia A. Shipman, Olga C.
Uresandi, Wendy K. Chung, Rudolph L. Leibel, C. Nicholas Hales, Peter O'Connell, and John Blangero
704 Genome Scanning for Linkage: An Overview
Alice S. Whittemore
717 Selected Locus and Multiple Panel Models for Radiation Hybrid Mapping
Kathryn L. Lunetta, Michael Boehnke, Kenneth Lange, and David R. Cox

726 A Pseudolikelihood Approach to Correcting for Ascertainment Bias in Family Studies


Daniel Rabinowitz

Letters to the Editor


731 Evidence of Linkage Disequilibrium between Schizophrenia and the SCAl CAG Repeat on Chromosome
6p23
Shengbiao Wang, Sevilla D. Detera-Wadleigh, Hilary Coon, Cui-e Sun, Lynn R. Goldin, David L. Duffy, William F.
Byerley, Elliot S. Gershon, and Scott R. Diehl
736 The Genetic Basis of Muir-Torre Syndrome Includes the hMLH1 Locus
Bharati Bapat, Ling Xia, Lisa Madlensky, Angela Mitri, Patricia Tonin, Steven A. Narod, and Steven Gallinger

739 De Novo Duplication in Charcot-Marie-Tooth Type 1A


Paola Mandich, Emilia Bellone, Angelo Schenone, Gianluigi Mancardi, Michele Abbruzzese, and Franco Ajmar
740 Differentiation of the Glucocerebrosidase Gene from Pseudogene by Long-Template PCR: Implications

for Gaucher Disease


Nahid Tayebi, Shana Cushner, and Ellen Sidransky
741 The Genetics of Traditional Living: Y-Chromosomal and Mitochondrial Lineages in the Sinai Peninsula
A.-H. Salem, F. M. Badr, M. F. Gaballah, and S. Paabo

743 Nonsyndromic Cleft Lip With or Without Cleft Palate: New BCL3 Information
Chris Amos, David Gasser, and Jacqueline T. Hecht
744 Nonsyndromic Cleft Lip With or Without Cleft Palate: Erratum
Chris Amos, Jonathan Stein, John B. Mulliken, Samuel Stal, Susan Malcolm, Robin Winter, Susan Halloran Blanton,
Eva Seemanova, David L. Gasser, and Jacqueline T. Hecht

1444

Contents of Volume 59

Announcements
745 Employment and Fellowship Opportunities; Workshop; Course; Mutation Database; Regional Mapping
Panels; Call for Patients

Erratum
747 Paleolithic and Neolithic Lineages in the European Mitochondrial Gene Pool, by Richards et al.
(uly 1996 [59:185-203])

Information for Contributors

October 1996
i This Month in the Journal
John Ashkenas

Invited Editorials
749 Mutational Analysis of the Human Mitochondrial Genome Branches into the Realm of Bacterial Genetics
Neil Howell
756 Williams Syndrome Starts Making Sense
John Ashkenas
762 Efficacy of a Targeted Genetic Screening Program for Adolescents
Linda McCabe

Review Article
764 The Role of the Laboratory Mouse in the Human Genome Project
Miriam H. Meisler

Original Articles
772 The Mutation Rate of the Human mtDNA Deletion mtDNA4977
R. Shenkar, William Navidi, Simon Tavare, Mark H. Dang, Anne Chomyn, Giuseppe Attardi, Gino Cortopassi, and
Norman Arnheim
781 Molecular Definition of the Chromosome 7 Deletion in Williams Syndrome and Parent-of-Origin Effects
on Growth
Luis A. Perez Jurado, Risa Peoples, Paige Kaplan, Ben C. J. Hamel, and Uta Francke
793 Twenty-Year Outcome Analysis of Genetic Screening Programs for Tay-Sachs and

Carriers in High Schools

IP-Thalassemia Disease

John J. Mitchell, Annie Capua, Carol Clow, and Charles R. Scriver


799 Premature Chain Termination Is a Unifying Mechanism for COLlAll Null Alleles in Osteogenesis
Imperfecta Type I Cell Strains
Marcia C. Willing, Sachi P. Deschenes, Rebecca L. Slayton, and Erik J. Roberts

Contents of Volume 59

1445

810 Mutations in the MGAT2 Gene Controlling Complex N-Glycan Synthesis Cause Carbohydrate-Deficient
Glycoprotein Syndrome Type 11, an Autosomal Recessive Disease with Defective Brain Development
Jenny Tan, James Dunn, Jaak Jaeken, and Harry Schachter

818 RNA-Based Mutation Screening in Hereditary Nonpolyposis Colorectal Cancer


Maija Kohonen-Corish, Veronica L. Ross, William F. Doe, Deborah A. Kool, Edward Edkins, Ian Faragher, Juul
Wijnen, P. Meera Khan, Finlay Macrae, and D. James B. St John
825 Genetic Recombination at the Human RH Locus: A Family Study of the Red-Cell Evans Phenotype
Reveals a Transfer of Exons 2-6 from the RHD to the RHCE Gene
C.-H. Huang, Y. Chen, M. Reid, and S. Ghosh

834 Apparent Gene Conversions Involving the SMN Gene in the Region of the Spinal Muscular Atrophy
Locus on Chromosome 5
Gerrit van der Steege, Petra M. Grootscholten, Jan Maarten Cobben, Stefania Zappata, Hans Scheffer, Johan T. den
Dunnen, Gert-Jan B. van Ommen, Christina Brahe, and Charles H. C. M. Buys
839 A High Frequency of Distinct ATM Gene Mutations in Ataxia-Telangiectasia
Jocyndra Wright, Sharon Teraoka, Suna Onengut, Aslihan Tolun, Richard A. Gatti, Hans D. Ochs, and Patrick
Concannon

847 Expansion and Methylation Status at FRAXE Can Be Detected on EcoRI Blots Used for FRAXA Diagnosis:
Analysis of Four FRAXE Families with Mild Mental Retardation in Males
V. Biancalana, L. Taine, J.-C. Bouix, S. Finck, A. Chauvin, H. De Verneuil, S. J. L. Knight, C. Stoll, D. Lacombe, and
J.-L. Mandel
855 Linkage of Wolfram Syndrome to Chromosome 4pi 6.1 and Evidence for Heterogeneity
David A. Collier, Timothy G. Barrett, David Curtis, Andrew Macleod, Maria J. Arranz, J. Antonie Maassen, and Sarah
Bundey
864 Evidence for a Major Retinitis Pigmentosa Locus on 19q1 3.4 (RP1 1), and Association with a Unique

Bimodal Expressivity Phenotype


Mai Al-Maghtheh, Eranga Vithana, Emma Tarttelin, Marcelle Jay, Kevin Evans, Tony Moore, Shomi Bhattacharya, and
Chris F. Inglehearn

872 Limb-Girdle Muscular Dystrophy and Miyoshi Myopathy in an Aboriginal Canadian Kindred Map to

LGMD2B and Segregate with the Same Haplotype


Tracey Weiler, Cheryl R. Greenberg, Edward Nylen, William Halliday, Kenneth Morgan, Douglas Eggertson, and Klaus
Wrogemann

879 Genetic Homogeneity of Autoimmune Polyglandular Disease Type I


P. Bjorses, J. Aaltonen, A. Vikman, J. Perheentupa, G. Ben-Zion, G. Chiumello, N. Dahl, P. Heideman, J. J. G.
Hoorweg-Nijman, L. Mathivon, P. E. Mullis, M. Pohl, M. Ritzen, G. Romeo, M. S. Shapiro, C. S. Smith, J. Solyom,
J. Zlotogora, and L. Peltonen

887 Somatic-Cell Selection Is a Major Determinant of the Blood-Cell Phenotype in Heterozygotes for
Glucose-6-Phosphate Dehydrogenase Mutations Causing Severe Enzyme Deficiency
Stefania Filosa, Nunzia Giacometti, Cai Wangwei, Domenico De Mattia, David Pagnini, Fiorella Alfinito, Francesco
Schettini, Lucio Luzzatto, and Giuseppe Martini
896 Analysis of Meiotic Segregation, Using Single-Sperm Typing: Meiotic Drive at the Myotonic Dystrophy
Locus
Esther P. Leeflang, Mary Sara McPeek, and Norman Arnheim

1446

Contents of Volume 59

905 Search for Unstable DNA in Schizophrenia Families with Evidence for Genetic Anticipation
Arturas Petronis, Anne S. Bassett, William G. Honer, John B. Vincent, Yuriy Tatuch, Tsukasa Sasaki, Da-Jun Ying,
Timothy A. Klempan, and James L. Kennedy

912 Expansion of 50 CAG/CTG Repeats Excluded in Schizophrenia by Application of a Highly Efficient


Approach Using Repeat Expansion Detection and a PCR Screening Set
Timothy Bowen, Carol Guy, Graham Speight, Lisa Jones, Alastair Cardno, Kieran Murphy, Peter McGuffin, Michael J.
Owen, and Michael C. O'Donovan
918 Prenatal Detection of Chromosome Aneuploidies in Uncultured Chorionic Villus Samples by FISH
Thue Bryndorf, Britta Christensen, Marianne Vad, Jan Parner, Michael P. Carelli, Brian E. Ward, Katherine W. Klinger,
Jens Bang, and John Philip
927 Pre-Caucasoid and Caucasoid Genetic Features of the Indian Population, Revealed by mtDNA

Polymorphisms
Giuseppe Passarino, Ornella Semino, Luigi F. Bernini, and A. Silvana Santachiara-Benerecetti

935 Origin and Evolution of Native American mtDNA Variation: A Reappraisal


Peter Forster, Rosalind Harding, Antonio Torroni, and Hans-Jurgen Bandelt

946 Identifying Marker Typing Incompatibilities in Linkage Analysis


Heather M. Stringham and Michael Boehnke

951 Mapping Quantitative-Trait Loci in Humans by Use of Extreme Concordant Sib Pairs: Selected Sampling

by Parental Phenotypes
Heping Zhang and Neil Risch

Letters to the Editor


958 7q1 1.23 Deletions in Williams Syndrome Arise as a Consequence of Unequal Meiotic Crossover
Zsolt Urban, Cynthia Helms, Gyorgy Fekete, Katalin Csiszar, Damien Bonnet, Arnold Munnich, Helen Donis-Keller,
and Charles D. Boyd
962 A Somatic Truncating Mutation in BRCA2 in a Sporadic Breast Tumor
Bernhard H. F. Weber, Monika Brohm, Ingrid Stec, Jael Backe, and Hans Caffier

964 A View of the Neolithic Demic Diffusion in Europe through Two Y Chromosome-Specific Markers
Ornella Semino, Giuseppe Passarino, Agnese Brega, Marc Fellous, and A. Silvana Santachiara-Benerecetti
968 Questioning the Need for Anonymous Genetic Counseling and Testing
Wendy R. Uhlmann, David Ginsburg, Thomas D. Gelehrter, Jane Nicholson, and Elizabeth M. Petty

Announcements
971 Employment and Fellowship Opportunities; Conferences; Human-Diversity Collection

Information for Contributors

1447

Contents of Volume 59

November 1996
i This Month in the journal
John Ashkenas

Invited Editorials
973 Anticipation: An Old Idea in New Genes
Melvin G. McInnis

980 Quest for the Elusive Genetic Basis of Tourette Syndrome


Pragna 1. Patel
983 The TDT and Other Family-Based Tests for Linkage Disequilibrium and Association
Richard S. Spielman and Warren J. Ewens

Original Articles
990 Anticipation in Familial Leukemia
Marshall Horwitz, Ellen L. Goode, and Gail P. Jarvik

999 Tourette Syndrome in a Pedigree with a 7; 18 Translocation: Identification of a YAC Spanning the
Translocation Breakpoint at 1 8q22.3
Leslie Boghosian-Sell, David E. Comings, and Joan Overhauser
1006 Gene Structure and Mutations of Glutaryl-Coenzyme A Dehydrogenase: Impaired Association of
Enzyme Subunits That Is Due to an A421 V Substitution Causes Glutaric Acidemia Type I in the Amish
Barbara J. Biery, Donna E. Stein, D. Holmes Morton, and Stephen 1. Goodman
1012 Glutaric Aciduria Type I in the Arab and Jewish Communities in Israel
Y. Anikster, A. Shaag, A. Joseph, H. Mandel, B. Ben-Zeev, E. Christensen, and 0. N. Elpeleg
1019 Novel Molecular Variants of the Na-Cl Cotransporter Gene Are Responsible for Gitelman Syndrome
Nadia Mastroianni, Alberto Bettinelli, Mario Bianchetti, Giacomo Colussi, Maurizio De Fusco, Fabio Sereni, Andrea
Ballabio, and Giorgio Casari
1027 Familial Occurrence of Typical and Severe Lethal Congenital Contractural Arachnodactyly Caused by
Missplicing of Exon 34 of Fibrillin-2
Mei Wang, Carol L. Clericuzio, and Maurice Godfrey
1035 Expression and Molecular Analysis of Mutations in Prolidase Deficiency
Pierre Ledoux, Charles R. Scriver, and Peter Hechtman

1040 Mild and Severe Muscular Dystrophy Caused by a Single y-Sarcoglycan Mutation
Elizabeth M. McNally, Maria Rita Passos-Bueno, Carsten G. Bonnemann, Mariz Vainzof, Eloisa de Sa Moreira, Hart
G. W. Lidov, Kamel Ben Othmane, Peter H. Denton, Jeffery M. Vance, Mayana Zatz, and Louis M. Kunkel
1048 Molecular Analysis of a GM2-Activator Deficiency in Two Patients with GM2-Gangliosidosis AB Variant
U. Schepers, G. Glombitza, T. Lemm, A. Hoffmann, A. Chabas, P. Ozand, and K. Sandhoff
1057 Hybrid Survival Motor Neuron Genes in Patients with Autosomal Recessive Spinal Muscular Atrophy:
New Insights into Molecular Mechanisms Responsible for the Disease
Eric Hahnen, Jutta Sch6nling, Sabine Rudnik-Schdneborn, Klaus Zerres, and Brunhilde Wirth

Contents of Volume 59

1448

1066 A Recombination Hot Spot in the Rh Genes Revealed by Analysis of Unrelated Donors with the Rare
D-- Phenotype
T. J. Kemp, M. Poulter, and B. Carritt
1074 Myosin VIIA Mutation Screening in 189 Usher Syndrome Type 1 Patients
M. D. Weston, P. M. Kelley, L. D. Overbeck, M. Wagenaar, D. J. Orten, T. Hasson, Z.-Y. Chen, D. Corey,
M. Mooseker, J. Sumegi, C. Cremers, C. M1l1er, S. G. Jacobson, M. B. Gorin, and W. J. Kimberling
1084 Genomic Imprinting of the Human Serotonin-Receptor (HTR2) Gene Involved in Development of

Retinoblastoma
Mitsuo V. Kato, Takashi Shimizu, Mariko Nagayoshi, Akihiro Kaneko, Masao S. Sasaki, and Yoji Ikawa

1091 Analysis of Loss of Inactive X Chromosomes in Interphase Cells


J. Surralles, P. Jeppesen, H. Morrison, and A. T. Natarajan
1097 Genetic Linkage of Familial Granulomatous Inflammatory Arthritis, Skin Rash, and Uveitis to
Chromosome 16
G. Tromp, H. Kuivaniemi, S. Raphael, L. Ala-Kokko, A. Christiano, E. Considine, R. Dhulipala, J. Hyland, A. Jokinen,
S. Kivirikko, R. Korn, S. Madhatheri, S. McCarron, L. Pulkkinen, H. Punnett, K. Shimoya, L. Spotila, A. Tate, and
C. J. Williams

1108 Sex Ratio in Normal and Disomic Sperm: Evidence That the Extra Chromosome 21 Preferentially
Segregates with the Y Chromosome
Darren K. Griffin, Michael A. Abruzzo, Elise A. Millie, Eleanor Feingold, and Terry J. Hassold
1114 Normal Phenotype with Maternal Isodisomy in a Female with Two Isochromosomes: i(2p) and i(2q)
Fabiana Bernasconi, Ahmet KaragUzel, Figen Celep, Ibrahim Keser, Guven Luleci, Fabrizio Dutly, and Albert A.
Schinzel

1119 Association of the Insulin-Receptor Variant Met-985 with Hyperglycemia and Non-Insulin-Dependent
Diabetes Mellitus in the Netherlands: A Population-Based Study
L. M. 't Hart, R. P. Stolk, R. J. Heine, D. E. Grobbee, F. E. E. van der Does, and J. A. Maassen
1126 The Origins of the Lemba "Black Jews" of Southern Africa: Evidence from p12F2 and Other

Y-Chromosome Markers
Amanda B. Spurdle and Trefor Jenkins

1134 The Role of HLA Class 11 Genes in Insulin-Dependent Diabetes Mellitus: Molecular Analysis of 180

Caucasian, Multiplex Families


Janelle A. Noble, Ana M. Valdes, Margaret Cook, William Klitz, Glenys Thomson, and Henry A. Erlich
1149 Consanguinity and the Sib-Pair Method: An Approach Using Identity by Descent Between and Within

Individuals
Emmanuelle Genin and FranBoise Clerget-Darpoux

Letters to the Editor


1163 Apparent Autosomal Recessive Inheritance in Families with Proximal Spinal Muscular Atrophy Affecting
Individuals in Two Generations
Sabine Rudnik-Schoneborn, Klaus Zerres, Eric Hahnen, Gerhard Meng, Thomas Voit, Folker Hanefeld, and Brunhilde
Wirth

1449

Contents of Volume 59

1165 A Specific Superoxide Dismutase Mutation Is on the Same Genetic Background in Sporadic and Familial
Cases of Amyotrophic Lateral Sclerosis
Caroline Hayward, Robert J. Swingler, Sheila A. Simpson, and David J. H. Brock

1167 A Discordance between mtDNA Diversity and Blood-Protein Heterozygosity in Northern Siberian

Populations
Boris A. Malyarchuk

1168 FRAXE Testing


Elke Holinski-Feder, Soheyla Chahrokh-Zadeh, Kerry Baldwin Jedele, Alfons Meindl, Peter Steinbach, and Doris
Wohrle
1169 Anonymous Genetic Testing: Reply to Mehiman et al.
Ellen Wright Clayton and Mark A. Rothstein

1170 Reply to Clayton and Rothstein


Maxwell J. Mehlman, Eric D. Kodish, Peter Whitehouse, Arthur B. Zinn, and Suzanne B. Cassidy

Announcements
1171 Employment and Fellowship Opportunities; Meetings; Courses; Call for Specimens; Request for

Proposals

Erratum
1174 Cost Comparison of Molecular versus Conventional Screening of Relatives at Risk for Retinoblastoma,
by Noorani et al. (August 1996 [59:301 -307])

Information for Contributors

December 1996
i This Month in the Journal
John Ashkenas

Invited Editorials
1175 The Extent, Mechanism, and Consequences of Genetic Variation, for Recombination Rate
Wendy P. Robinson
1184 Desmoid Tumors: Genotype-Phenotype Differences in Familial Adenomatous PolyposisA Nosological Dilemma
Henry T. Lynch

Original Articles
1186 Individual Variation in Recombination among Human Males
Jian Yu, Laura Lazzeroni, Jian Qin, Mei-Mei Huang, William Navidi, Henry Erlich, and Norman Arnheim

1193 Hereditary Desmoid Disease Due to a Frameshift Mutation at Codon 1924 of the APC Gene
Diana M. Eccles, Rob van der Luijt, Cor Breukel, Hilary Bullman, David Bunyan, Andrew Fisher, John Barber, Clair
du Boulay, John Primrose, John Burn, and Riccardo Fodde

1450

Contents of Volume 59

1202 Mucopolysaccharidosis Type 11 (Hunter Syndrome): Mutation "Hot Spots" in the


lduronate-2-Sulfatase Gene
Michaela Rathmann, Susanna Bunge, Michael Beck, Hans Kresse, Anna Tylki-Szymanska, and Andreas Gal
1210 Human Peroxisome Assembly Factor-2 (PAF-2): A Gene Responsible for Group C Peroxisome Biogenesis
Disorder in Humans
Seiji Fukuda, Nobuyuki Shimozawa, Yasuyuki Suzuki, Zhongyi Zhang, Shunji Tomatsu, Toshiro Tsukamoto, Noriyo
Hashiguchi, Takashi Osumi, Mitsuo Masuno, Kiyoshi Imaizumi, Yoshikazu Kuroki, Yukio Fujiki, Tadao Orii, and
Naomi Kondo
1221 Spectrum of Mutations in the COL4A5 Collagen Gene in X-Linked Alport Syndrome
Bertrand Knebelmann, Christelle Breillat, Lionel Forestier, Christelle Arrondel, Delphine Jacassier, loannis Giatras,
Laurent Drouot, Georges Deschenes, Jean-Pierre Grunfeld, Michel Broyer, Marie-Claire Gubler, and Corinne
Antignac

1233 Molecular Heterogeneity of Late-Onset Forms of Globoid-Cell Leukodystrophy


Rita De Gasperi, Miguel A. Gama Sosa, Edi L. Sartorato, Stefania Battistini, Heather MacFarlane, James F. Gusella,
William Krivit, and Edwin H. Kolodny
1243 Age and Origin of Two Common MLH1 Mutations Predisposing to Hereditary Colon Cancer
Anu-Liisa Moisio, Pertti Sistonen, Jean Weissenbach, Albert de la Chapelle, and Piivi Peltomaki
1252 Familial Transmission of the FMR1 CGG Repeat
Sarah L. Nolin, French A. Lewis, 111, Ling Ling Ye, George E. Houck, Jr., Anne E. Glicksman, Pornprot Limprasert,
Shu Yun Li, Nan Zhong, Allison E. Ashley, Eleanor Feingold, Stephanie L. Sherman, and W. Ted Brown

1262 High Prevalence of a Mutation in the Cystathionine P-Synthase Gene


Michael Y. Tsai, Michelle Bignell, Kerry Schwichtenberg, and Naomi Q. Hanson
1268 Severe and Mild Mutations in cis for the Methylenetetrahydrofolate Reductase (MTHFR) Gene, and
Description of Five Novel Mutations in MTHFR
Philippe Goyette, Benedicte Christensen, David S. Rosenblatt, and Rima Rozen
1276 Heteroplasmic Point Mutations in the Human mtDNA Control Region
Kate E. Bendall, Vincent A. Macaulay, Juliet R. Baker, and Bryan C. Sykes
1288 Exclusion of Epidermal Growth Factor and High-Resolution Physical Mapping across the Rieger
Syndrome Locus
Elena V. Semina, Nicole A. Datson, Nancy J. Leysens, Bernhard U. Zabel, John C. Carey, Graeme 1. Bell, Pierre
Bitoun, Christine Lindgren, Teri Stevenson, Rune R. Frants, Gert-jan van Ommen, and Jeffrey C. Murray
1297 Closing in on the Rieger Syndrome Gene on 4q25: Mapping Translocation Breakpoints within a 50-kb

Region
Nicole A. Datson, Elena Semina, Andre A. A. van Staalduinen, Hans G. Dauwerse, Eric J. Meershoek, Joris J. Heus,
Rune R. Frants, Johan T. den Dunnen, Jeffrey C. Murray, and Gert Jan B. van Ommen
1306 Linkage of Frontotemporal Dementia to Chromosome 17: Clinical and Neuropathological

Characterization of Phenotype
Larry H. Yamaoka, Kathleen A. Welsh-Bohmer, Christine M. Hulette, P. Craig Gaskell, Jr., Michael Murray, Jackie L.
Rimmler, Barbara Rosi Helms, Marc Guerra, Allen D. Roses, Donald E. Schmechel, and Margaret A. Pericak-Vance

1313 Linkage-Disequilibrium Mapping Narrows the Fukuyama-Type Congenital Muscular Dystrophy (FCMD)
Candidate Region to <100 kb
Tatsushi Toda, Masashi Miyake, Kazuhiro Kobayashi, Kunihiko Mizuno, Kayoko Saito, Makiko Osawa, Yusuke
Nakamura, Ichiro Kanazawa, Yasuo Nakagome, Katsushi Tokunaga, and Yutaka Nakahori

Contents of Volume 59

1451

1321 Autosomal Dominant Iridogoniodysgenesis Anomaly Maps to 6p25


Alan J. Mears, Farideh Mirzayans, Douglas B. Gould, William G. Pearce, and Michael A. Walter
1328 The Gene for Autosomal Dominant Cerebellar Ataxia Type Il Is Located in a 5-cM Region in 3p12-p13:
Genetic and Physical Mapping of the SCA7 Locus
G. David, P. Giunti, N. Abbas, P. Coullin, G. Stevanin, W. Horta, R. Gemmill, J. Weissenbach, N. Wood, S. Cunha,
H. Drabkin, A. E. Harding, Y. Agid, and A. Brice

1337 A Translocation at 12q2 Refines the Interval Containing the Holt-Oram Syndrome 1 Gene
Jonathan A. Terrett, Ruth Newbury-Ecob, Nigel M. Smith, Quan Yi Li, Christine Garrett, Phil Cox, Damien Bonnet,
Stanislas Lyonnet, Arnold Munnich, Alan J. Buckler, and J. David Brook
1343 A Follow-Up Report of a Genome Search for Affective Disorder Predisposition Loci in the Old Order

Amish
Michele C. LaBuda, Mady Maldonado, Dianna Marshall, Kevin Otten, and Daniela S. Gerhard

1363 High Mitochondrial Sequence Diversity in Linguistic Isolates of the Alps


Michele Stenico, Loredana Nigro, Giorgio Bertorelle, Francesc Calafell, Mariantonia Capitanio, Cleto Corrain, and
Guido Barbujani
1376 Using Discordant Sib Pairs to Map Loci for Qualitative Traits with High Sibling Recurrence Risk
John J. Rogus and Andrzej S. Krolewski
1382 Using the Expectation or the Distribution of the Identity by Descent for Mapping Quantitative Trait

Loci under the Random Model


Damian D. G. Gessler and Shizhong Xu

Letters to the Editor


1391 A 68-bp Insertion Found in a Homocystinuric Patient Is a Common Variant and Is Skipped by
Alternative Splicing of the Cystathionine P-Synthase mRNA
Maria Pia Sperandeo, Raffaella de Franchis, Generoso Andria, and Gianfranco Sebastio
1393 Widening of a Y-Chromosome Interval-6 Deletion Transmitted from a Father to His Infertile Son
Accounts for an Oligozoospermia Critical Region Distal to the RBM1 and DAZ Genes
Liborio Stuppia, Giuseppe Calabrese, Paolo Guanciali Franchi, Rita Mingarelli, Valentina Gatta, Giandomenico
Palka, and Bruno Dallapiccola
1395 Premeiotic Trisomy 21 in Oocytes and Down Syndrome: A Reply to Zheng and Byers's Hypothesis
Stylianos E. Antonarakis

1397 Implications of the Oocyte-Selection Hypothesis: A Response to the Interpretation by Antonarakis


Chang-Jiang Zheng and Breck Byers
1398 DNA Identification
Newton E. Morton

1399 Reply to Morton


1. W. Evett, P. D. Gill, and B. S. Weir
1400 The Reunion Paradox and the Digenic Model
Jacques S. Beckmann

1452

Contents of Volume 59

Book Reviews
1403 Counseling Aids for Geneticists. 3d ed. By Kevin M. Sweet, Mary C. Phelan, Jack C. Tarleton, Eric C.
Crawford, Beth Christensen, Richard J. Schroer, and Harold A. Taylor
Reviewed by Robin L. Bennett
1404 Cell Cycle Control. Edited by Christopher Hutchison and David M. Glover; and The Cell Cycle:
An Introduction. By Andrew Murray and Tim Hunt
Reviewed by John Ashkenas

1405 Genomic Imprinting: Causes and Consequences. Edited by R. OhIsson, K. Hall, and M. Ritzen
Reviewed by Fay L. Shamanski

Announcements
1407 Employment Opportunity; Conferences; Course; Mutant-Cell Repository Catalog
1409 American Board of Medical Genetics Diplomates
1411 Editorial Reviewers for 1996

1416 Author Index for Volume 59


1424 Subject Index for Volume 59
1433 Contents of Volume 59

Information for Contributors

Information for Contributors

The American Journal of Human Genetics is a record of


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Information for Contributors

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References examples:
Journal: Barker D, Holm T. White R (1984) A locus on chromosome 1lp with multiple restriction site polymorphisms. Am
J Hum Genet 36:1159-1171

Chapter: Goldstein JL, Brown MS (1983) Familial hypercholesterolemia. In: Stanbury JB, Wyngaarden JB, Frederickson
DS, Goldstein JL, Brown MS (eds) The metabolic basis
of inherited disease, 5th ed. McGraw-Hill, New York, pp
672-712

Entire Volume: Dayhoff MV (ed) (1978) Atlas of protein sequence and structure. Vol 5, suppl 3. National Biomedical
Research Foundation, Washington, DC

Meeting Paper: Novacek MJ, Wyss AR (1985) Morphology,


molecules, and eutherian phylogeny: the search for congruence. Paper presented at the Fourth International Theriological
Congress, Edmonton, Alberta, August 13-20
Report: Hasstedt SJ, Cartwright PE (1981) PAP: pedigree analysis package. Tech rep 13, Department of Biophysics and
Computing, University of Utah, Salt Lake City

Information for Contributors

Thesis/Dissertation: Khoury MJ (1985) A genealogical study


of inbreeding and prereproductive morality in the Old Order
of Amish. PhD thesis, Johns Hopkins University, Baltimore
Work "in press": King CE. Age-specific selection. II. The interaction of growth factors. J Exp Biol (in press)
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references section. Cite in the text as "personal communication" or "unpublished data" and submit letters of authorization from the sources.
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AMP = adenosine monophosphate
ATP = adenosine triphosphate

BrdUrd = bromodeoxyuridine
BSA = bovine serum albumin
cDNA = complementary DNA
CEPH = Centre d'Etude du Polymorphisme Humain
CMP = cytidine monophosphate
CNS = central nervous system
CTP = cytidine triphosphate
df = degree(s) of freedom
dNTP = dinucleotide triphosphate
DTT = dithiothreitol
DZ = dizygotic
EDTA = ethylenediaminetetraacetate
FCS = fetal calf serum
FISH = fluorescent(ce) in situ hybridization
FSH = follicle-stimulating hormone
GMP = guanosine monophosphate
GTP = guanosine triphosphate
mRNA = messenger RNA
mtDNA = mitochondrial DNA
MZ = monozygotic

Information for Contributors

NAD (NADH) = nicotinamide adenine dinucleotide


NADP = nicotinamide adenine dinucleotide phosphate
PAGE = polyacrylamide gel electrophoresis
PBS = phosphate-buffered saline
PCR = polymerase chain reaction
PIC = polymorphism information content
rDNA = ribosomal DNA
RFLP = restriction-fragment-length polymorphism
rRNA = ribosomal RNA
SD = standard deviation
SDS = sodium dodecyl sulfate
SEM = standard error of the mean
SSC = saline sodium citrate
SSCP = single-strand(ed) conformation polymorphism
TMP = thymidine monophosphate
tRNA = transfer RNA
TSH = thyroid-stimulating hormone
TTP = thymidine triphosphate
UMP = uridine monophosphate
UTP = uridine triphosphate
UTR = untranslated region
UV = ultraviolet
VNTR = variable number of tandem repeats
YAC = yeast artificial chromosome

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O $120 Regular
E $20 Student without Journal
0 $180 Husband/Wife
o $125 Overseas Affiliate
2. air mail postage for AJHG outside the United States ..................................................................................................................$2
Optional
C $40 Canada, Mexico Central America
E $70 all other areas
DISCOUNT SUBSCRIPTIONS
3. S 99 for BioEssays....$ ______..
. .
4.$565 elsewhere for Cancer Genetics and Cytogenctics
...............................................................................................................$
US/$692
....$
5. $ 80 for Clinical Dysmorphology
.6
6. $127 for Current Biology....$..
7.
$156 for Current Opinion in Cell Biology
............................... ...................................................................................$7
. .
$1568.for Current Opinion in Genetics & Development
.................................................................................................................$
.............................................................$9
9. $317C-ROMfor
loose-leaf/$396 Current Protocols in Human Genetics ....................................................
. .
Genetics
10.$488
elsewhere for Cytogenetics and Cell
...............................................................................................................$ 10
Europe/$492
11.$194 elsewhere
198for European Journal of Human Genetics . ................................................................................................................$11
Europe/$
.
12.$95 elsewhere for Genes & Development
US/$190
................................................................................................................$ 12
America/$130
13.$100North elsewhere for Genetic Epidemiology (Canadian residents must pay 7% GST) ........................ ......................................................$ 13
.
................................................................................................ $ 14
14.$83 elsewhere for Genome Research ................
US/$125
.
US 15.
and
$195 Canada/$233 elsewhere for Genomics
............................................................................................................... .$ 15
.
.
$235 16.US/$295 elsewhere for Human Gene
.................................................................................................................$ 16
Therapy
....$
.17
17. $395 for Human Genetics
. ................................................................................................................$ 18
The Excerpt Medicaa AbstractJournal
Human
18.Genetics,
$295for
19.$118 elsewhere for Human Heredity.....................................................................................................................................................................$ 19
Europe/$121
................................$ 20
20. $155 for Human Molecular Genetics Circle version desired: print or online (print will be sent if no preference is indicated) .............
21. $190 for Journal of Medical G enetics$.........................................................................................................................................................................................$ 21
22
$$
22.$166US,M
exico/$225 elsewhere (except Japan) for Nature Genetics
Canada,
.23
.....
_ _.
23. $ 99 for Pharmacogenetics
.24
_____......$
24. $1 06 for Trends in Genetics
25. $ 76.25 US, Canada/$90.50 elsewhere for Advances in Human Genetics (Vol. 21), 1993
$ 61.25 US, Canada/$72.50 elsewhere for Advances in Human Genetics (Vol. 22), 1994
Canadian residents add 7% GST for Advances in Human Genetics: $New York/New Jersey residents add sales tax for Advances in Human Genetics: $............................................................................................$25
Entertotalfor Advances in Human Genetics .....................
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26. Identify Annual Reviews by title, volume, year and price: 1995 Member price $38 US/$42 outside US including Canada
1996 Member price $43 US/$47 outside US including Canada
1997 Member price $48 US/$52 outside US including Canada
_________________
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Year P_____________________________________ ___________
Vol.
Title
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Title
..

..

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Title

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.................................................................................................$26
Enter total payment for Annual Reviews ............
.
. $ 27
....................................................
$100
$75
other
to ASHG general fund: $25 _ _$50
contribution
27.
Optional
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TOTAL
28.REMITTANCE ENCLOSED.
PLEASE RETURN THIS NOTICE WITH YOUR REMITTANCE (U.S. Currency Only). See reverse for credit card information.
September 1996 form. After September 1997, please contact the Administrative Officefor updated prices.

METHOD OF PAYMENT - 1997 ASHG MEMBER DUES


Payment may be made via money order; a check drawn on a U.S. bank, in U.S. currency only, and made payable to The American Society
of Human Genetics; MasterCard or Visa credit card. Credit card payment will not be accepted via telephone or fax. Checks drawn on
foreign banks cannot be accepted. Persons in countries with restrictions may apply to the Administrative Office for assistance.
For credit card remittance, please supply the following information:
Signature
Names on credit card_
(please print)

Circle type of card: MasterCard


(no other cards accepted).

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Please note: ASHG is qualified as a 501(C) (3) organization. Dues and contributions are deductible
for a calendar year subscription to The American Journal ofHuman Genetics.
Member Profile Form

as

VISA

allowed by law. Dues payment includes $60

Name:
Please type or print.

Primary Affiliation Check one:


MEDICAL SCHOOL DEPTS.

A. __Genetics
B.
Pediatrics
C. __Pathology

D. _Psychiatry
E. _Medicine

F.
Ob/Gyn
G. __Repro.Med.
H.
Neurology
1.
Family Medicine

J. _Other

See box at right for codes:


Earned Degrees

OTHER
K. __Hospitals and Clinics
L.
HMO
M. __Dental Schools
N. __Publ Hith & Grad School
0. _College or University

Academic Rank

EI III

P.
Q.
R.
S.
T.

Nursing School
U. __Federal Government
V. __State/Local Government
Veterinary School
Private Practice
W.
Refired
Commercial Company X. Other

Institutes/Foundations

Position

171pJ

A. MD

1. MA

MAJOR TYPE OF WORK Check one that accounts for more than 50% of your time:
A. _Research B. Teaching C._Administration D. _Clinical E. _Counseling
SECONDARY TYPE OF WORK Check one ff it represents a significant portion of
time and is different from your major type of work:
A.__Research B. Teaching C._Administration D._Clinical E._Counseling
LABORATORY SETTING If you are primarily in a laboratory setting, indicate focus:
A.
private diagnostic/reference lab
D.
private research lab
B._ univ affiliated diagnostic/reference lab
E.
univ affiliated research lab
C.
govt affiliated research lab

B. PhD
C. MSW
D. DVM
E. SCD

J. MSN
K. JD
L. MPH
M. RN

SPECIAL INTEREST AREAS Do not check more than two:


A.
H.
cancer genetics
inborn errors/biochemical genetics
I.
late onseVadult genetic disorders
B.
cytogenetics
C.
DNA forensics
J.
linkage mapping & polymorphisms
K.
D.
differentiation, development
molecular genetics
and morphogenesis
L. -pediatric genetics
E._ dysmorphology
M.
physical mapping
F.
ethics/sociaVlegal issues
N. _ population genetics/epidemiology
G.
gene structure & function
0.
prenatal/perinatal genetics

D. Instructor
E. Nonfaculty
Position Code
A. Dean
B. Department Chair
C. Division Chief
D. Institute Director
E. Laboratory Director
F. Training Program Director

CURRENT GRANT SUPPORT Check all that apply (US members only):
A.
NSF
F.
private foundation
B. = NIH training grant
G.
state
C.
private industry
H.
province
D.
NIH
institutional
1.
E. = postdoc fellowship
J.
other national agencies

F. DDS/DMD

N. BSN
G. ED.D
. BS/BA
H. MSP.
Other
Academic Rank Code
A. Professor
B. Associate Professor
C. Assistant Professor

G. Research Program Director


H. Program Coordinator/Administrator
1. Senior Research Associate
J. Research Associate
K. Research Assistant
L. Genetic Counselor
M. Postdoctoral Research Fellow
N. Postdoctoral Clinical Fellow

DESIGNATION(S) FOR YOUR RESEARCH


You may check more than one:
A.
Applied clinical research
D.
B. = Applied lab research
E.
C.
Applied mathematical research
F.
G.
OPTIONAL:
Year of Birth:
Gender: F E M E

0. Resident
P. Graduate Student

Basic clinical research


Basic lab research
Basic mathematical research
Other

Check Box(es):
A. C] American Indian, Eskimo and Aleut
B. E Asian, Paific Islander

C.
D.

(l Black

.White

0. Private Practice
R. Corporate Executive
S. Consultant
T. Other
E. El Other F. 0 Mixed
(Yea 0 No

tHis.anic

1997 ASHG MEMBERSHIP AND SUBSCRIPTIONS INFORMATION


Please keep this page for your reference.
Line 1. MEMBERSHIP CATEGORIES
Regular Membership is open to any resident of the Americas (U.S., Canada, Mexico, Caribbean, Central and South America) who is interested in
research in human genetics or in issues pertaining to human genetics.
Overseas Affiliate Status is open to individuals residing outside the Americas (U.S., Canada, Mexico, Caribbean, Central and South America).

Husband!Wifie Membership is open to couples who are both Regular members, but who receive only one Journal subscription. Please fill out one
membership application for each person.
Student Membership is open to postdoctoral fellows and bona fide students enrolled in degree-granting programs at institutions in the Americas
(U.S., Canada, Mexico, Caribbean, Central and South America).
Please note: ASHG is qualified as a 501(C) (3) organization. Dues and contributions are deductible as allowed by law. Dues payment includes $60
for a calendar year subscription to The American Journal ofHuman Genetics.
Line 2. OPTIONAL AIR MAIL POSTAGE OUTSIDE THE U.S.
For those who would like to receive The American Journal ofHuman Genetics via airmail, note additional postage on line 2.

DISCOUNT SUBSCRIPTONS
To obtain these discounts, orders must be placed through the ASHG Administrative Office. It is understood that these orders are intended for personal use
only. Standing orders are not available through ASHG. Typically, the publisher will begin mailing issues one or two months after your order is received
in the Administrative Office. Annual Reviews will be mailed at the book rate in the month of issue.
BioEssays, 12 issues, list price $120, member price $99.
Cancer Genetics and Cytogenetics, 14 issues, list price $1,898, member price $565 US/$692 elsewhere.
Clinical Dysmorphology, 4 issues, list price not available, member price $80.
Current Biology, 12 issues, list price $152, member price $127.
Current Opinion in Cell Biology, 6 issues, list price $194, member price $156.
Current Opinion in Genetics & Development, 6 issues, list price $194, member price $156.
Current Protocols in Human Genetics, 2 volumes, list price $385/$486, member price (loose-leaf) $317/(CD-ROM) $396.
Line 10. Cytogenetics and Cell Genetics, 16 issues, list price $998.80, member price $488 Europe/$492 elsewhere.
Line 11. European Journal of Human Genetics, 6 issues, list price $310, member price $194 Europe/$198 elsewhere.
Line 12. Genes & Development, 24 issues, list price US $120, elsewhere $215, member price $95 US/$190 elsewhere.
Line 13. Genetic Epidemiology, 6 issues, list price not available, member price $100 North America/$130 elsewhere.
Line 14. Genome Research, 12 issues, list price US $98, elsewhere $150, member price $83 US/$125 elsewhere.
Line 15. Genomics, 24 issues, list price $1,100 US/Canada, $1,300 elsewhere, member price $195 US and Canada/$233 elsewhere.
Line 16. Human Gene Therapy, 18 issues, list price $314 US/$402 elsewhere, member price $235 US/$295 elsewhere.
Line 17. Human Genetics, 12 issues, list price $2,226, member price $395.
Line 18. Human Genetics, The Excerpta Medica Abstract Journal, 20 issues, list price $2,200, member price $295.
Line 19. Human Heredity, 6 issues, list price $231, member price $118 Europe/$121 elsewhere.
Line 20. Human Molecular Genetics, 12 issues, list price (print) $185, (online) $165, member price $155.
Line 21. Journal of Medical Genetics, 12 issues, list price $319, member price $190.
Line 22. Nature Genetics, 12 issues, list price $195 US, Can, Mex, member price $166 US, Can, Mex/$225 elsewhere (except Japan).
Line 23. Pharmacogenetics, 6 issues, list price not available, member price $99.
Line 24. Trends in Genetics, 12 issues plus index, list price $131, member price $106.
Line 25. Advances in Human Genetics, Vol 21 (1993), list price $95/$114, member price $76.25 US, Can/$90.50 elsewhere.
Advances in Human Genetics, Vol 22 (1994), list price $75/$90, member price $61.25 US, Can/$72.50 elsewhere.
Line 26. Annual Reviews, 1995 member price $38 US/$42 outside US including Canada*
Annual Reviews, 1996 member price $43 US/$47 outside US including Canada*
Annual Reviews, 1997 member price $48 US/$52 outside US including Canada*
Public Hith
Biochem
Ecol & Sys
Cell & Dev. Biol
Immunology Medicine
Genetics
Microbiol
Annual Review of:
Vol. 64
Vol. 16
Vol. 46
Vol. 13
Vol. 26
Vol. 11
Vol. 29
Vol. 49
1995 Volumes
Vol. 65
Vol. 17
Vol.47
Vol. 14
Vol. 27
Vol. 12
Vol. 50
Vol. 30
1996 VolumTes
Vol. 66
Vol. 18
Vol. 48
Vol. 15
Available late 1997, will be offered on 1998 dues notice.
1997 Volumes
Nov.
July
May
April
Nov.
April
Oct.
Month of Publication Dec.
total.
on
*California residents add applicable sales tax. Canadian residents add 7% GST

Line 3.
Line 4.
Line 5.
Line 6.
Line 7.
Line 8.
Line 9.

Line 27: OFIQIOQAL CONTRIBUTIINS Optional contributions to the general fund are welcome. Contributions received will support
projects designed to attract more young people to the field of human genetics and are tax deductible to the extent permitted by law.

The American Journal of


Human Genetics
Genetic research wouldn't be
the same without it.
This is a journal that has played a major role in shaping
current theory and methods, in generating discussion and
commentary, in advancing the field - that's why you're
reading this issue. But if you're not a subscriber, you could
be missing important developments. If you don't want to
miss a single issue-and you'd like to take advantage of a
15% introductory discount-order today.

Save 15 % using the order form on reverse.

The American Journal of


Human Genetics_
Genetic research wouldn't be
the same without it.
This is a journal that has played a major role in shaping
current theory and methods, in generating discussion and
commentary, in advancing the field - that's why you're
reading this issue. But if you're not a subscriber, you could
be missing important developments. If you don't want to
miss a single issue-and you'd like to take advantage of a
15% introductory discount-order today.

Save 15 % using the order form on reverse.

Enter a new subscription and save 15%!


E Nonmember Individuals
Ol Institutions

New
aL $276.25 (J)
El 276.25 (J)

Renewal
LI $325.00
LI 325.00

For information on student and all other member rates, please


write to the American Society of Human Genetics.
Outside USA: please add $24 for postage.
Canadian residents: please add 7% GST.
Airmail rates available. Please write to The University of Chicago
Press at the address below.

El Back Issues-remaining issues (vols. 47-57) at 50% off:


El $814.90 Individuals
El $814.90 Institutions

Payment Options
Orders must include payment in U.S. dollars.
Fax credit card orders to:
(312) 753-0811 (before October 12, 1996)
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Please send your order to The University of Chicago Press, Journals Division, P.O. Box 37005, Chicago, IL 60637 USA.

IS7XX

Enter a new subscription and save 15%!


L Nonmember Individuals
El Institutions

New

Renewal

El $276.25 (J)

El $325.00
El 325.00

El

276.25 (J)

For information on student and all other member rates, please


write to the American Society of Human Genetics.
Outside USA: please add $24 for postage.
Canadian residents: please add 7% GST.
Airmail rates available. Please write to The University of Chicago
Press at the address below.

E Back issues-remaining issues (vols. 47-57) at 50% off:


El $814.90 Institutions

E$814.90 Individuals

Outside USA: please add 750 per issue for postage.


Canadian residents: please add 7% GST.

Payment Options
Orders must include payment in U.S. dollars.
Fax credit card orders to:
(312) 753-0811 (before October 12, 1996)
(773) 753-0811 (effective October 12, 1996)

1I Charge El MasterCard

EL Visa

Expiration date
Account no.

Signature
Phone number
L Check enclosed (in U.S. dollars drawn from a U.S. bank,
payable to the journal)

Name

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Visit our website at http://www.joumals.uchicago.edu/
Please send your order to The University of Chicago Press, Journals Division, P.O. Box 37005, Chicago, IL 60637 USA.

IS7XX

THE AMERICAN SOCIETY OF HUMAN GENETICS

was organized in 1948. Its purpose is to encourage research in human genetics and to bring into closer association
investigators in Canada, Mexico, and the United States who are interested in human genetic research and related
issues. The present bylaws were adopted in 1987. The board of directors consists of the president, president-elect,
secretary, treasurer, editor, the two most recent past presidents, and nine other directors.
BOARD OF DIRECTORS
President

Charles J. Epstein, M.D.


University of California, San
Francisco
San Francisco, CA
President-Elect

Larry J. Shapiro, M.D.


University of California School of

Medicine
San Francisco, CA

President 1994

Secretary

Ann C. M. Smith, M.A.


Georgetown University
Washington, DC

Maimon M. Cohen, Ph.D.


University of Maryland School of
Medicine
Baltimore, MD
President 1995

Treasurer

Stephen 1. Goodman, M.D.


University of Colorado Health
Sciences Center
Denver, CO

Judith G. Hall, M.D.


University of British Columbia
Vancouver, BC

Editor

Peter H. Byers, M.D.


University of Washington

School of Medicine
Seattle, WA
Directors

Diane Baker, M.S.


University of Michigan
Ann Arbor, Ml
Aravinda Chakravarti, Ph.D.
Case Western Reserve University
School of Medicine
Cleveland, OH
Thomas D. Gelehrter, M.D.
University of Michigan Medical
School
Ann Arbor, Ml

Michael R. Hayden, M.D., Ph.D.


University of British Columbia
Vancouver, BC

Jeffrey C. Murray, M.D.


University of Iowa
Iowa City, IA

Philip R. Reilly, M.D., J.D.


Shriver Center for Mental
Retardation, Inc.
Waltham, MA

Stephanie Sherman, Ph.D.


Emory University School of
Medicine
Atlanta, GA
Huntington F. Willard, Ph.D.
Case Western Reserve University
School of Medicine
Cleveland, OH
Savio L. C. Woo, Ph.D.

Baylor College of Medicine


Houston, TX