Chapter 1

Introduction to Genetics
COMPREHENSION QUESTIONS
Matching
For questions 1-8, match the research focus to the subdiscipline of genetics in
which that phenomenon is primarily studied.
1. Evolution (c) a. Transmission genetics
2. Chemical nature of gene (b) b. Molecular genetics
3. Gene regulation (b) c. Population genetics
4. Arrangement of genes on
chromosomes (a)
. Gene mapping (a)
!. "ifferences in allele fre#uencies in $et
an% %r& environments (c)
'. "ifferences in gene e(pression in $et
an% %r& environments (b)
). Translation (b)
True!a"se
*. +umans first applie% genetics to the %omestication of plants an% animals
bet$een appro(imatel& 1,-,,, an% 12-,,, &ears ago. (T)
1,. The theor& of pangenesis states that all living organisms are compose% of
cells. (!)
11. Man& human traits- such as s.in an% hair color- e(hibit blen%ing inheritance-
in $hich genetic information is mi(e% an% is not separate% in future generations.
(!)
12. /acteria an% viruses can be use% to stu%& genes an% inheritance- even
though the& are structurall& an% metabolicall& %ifferent from animal an% plant
cells. (T)
13. 0ome viruses have 12A as their genetic information. (T)
14. Charles "ar$in accuratel& %escribe% the la$s of inheritance in his lan%mar.
boo.- On the Origin of Species. (!)
1. Albinism re#uires a mutation in all of the genes that control the s&nthesis an%
storage of melanin. (!)
Chapter 1
1!. 0ome phenot&pes or traits- such as hair color- are %etermine% b& the
information provi%e% b& more than a single gene. (T)
1'. Evolution cannot occur $ithout genetic changes in populations. (T)
Short #ns$er
For questions 18-2, indicate which of the following theories of inheritance are
recogni!ed as supported by current e"idence, and which ha"e been pro"en to be
incorrect.
1). cell theor& su%%orted& correct
1*. pangenesis incorrect
2,. blen%ing inheritance incorrect
21. inheritance of ac#uire% characteristics incorrect
22. the i%ea that genetic information passes from "2A to 12A to protein
su%%orted& correct
23. germ3plasm theor& su%%orted& correct
Mu"ti%"e Choice
24. The first complete "2A se#uence of a non3viral- free3living organism $as
obtaine% for4
a. a bacterium in 1*,,.
b. a bacterium in 1*4.
5c. a bacterium in 1**.
%. humans in 1**,.
e. humans in 2,,,.
2. Genetic information can be carrie% in $hich of the follo$ing biomolecules6
a. proteins
b. "2A an% not 12A
c. 12A an% not "2A
5%. Either "2A or 12A
7ntro%uction to Genetics
2!. 8hich correctl& sho$s the flo$ of genetic information %uring gene
e(pression6
a. 12A 9 "2A 9 Protein
b. Protein 9 "2A 9 12A
5c. "2A 9 12A 9 Protein
%. "2A 9 Protein 9 "2A
e. 2one of the above.
2'. 8hich of the follo$ing species is consi%ere% a genetic mo%el organism6
a. the plant- #inaria "ulgaris
b. the %eer mouse- $eromyscus maniculatus
5c. the $orm- %aenorhabditis elegans
%. the frog- &yla chrysoscelis
e. the chimpan:ee- $an troglodytes
2). 8hich of the follo$ing $oul% serve least $ell as a mo%el for un%erstan%ing
basic mechanisms of inheritance6
a. fruit flies
5b. humans
c. &east
%. mice
e. :ebrafish
2*. The three3%imensional structure of "2A $as first %eciphere% base% on the
$or. of4
a. ;ames 8atson
b. <rancis Cric.
c. Maurice 8il.ins
%. 1osalin% <ran.lin
5e. all of the above
3,. 8hich of the follo$ing scientists contribute% significantl& to the foun%ations of
population genetics6
a. ;ames 8atson
b. Thomas +unt Morgan
5c. 1onal% <isher
%. Charles "ar$in
31. 8hich of the follo$ing scientists contribute% significantl& to the foun%ations of
molecular genetics6
5a. ;ames 8atson
b. Thomas +unt Morgan
c. ;ohn /. 0. +al%ane
%. Charles "ar$in
Chapter 1
32. 8hich of the follo$ing scientists contribute% significantl& to the foun%ations of
transmission genetics6
a. ;ames 8atson
5b. Thomas +unt Morgan
c. ;ohn /. 0. +al%ane
%. Charles "ar$in
33. The contribution Charles "ar$in ma%e to genetics $as to4
a. %emonstrate the connection bet$een Men%el=s principles of inheritance an%
evolution.
5b. propose that evolution occurs b& natural selection.
c. %evelop the theor& of evolution- base% on earlier theories of population
genetics.
%. connect the fiel%s of evolution an% molecular genetics.

34. The contribution of Gilbert an% 0anger to mo%ern genetics $as to4
a. %evelop the PC1 techni#ue.
b. %iscover "2A in the nucleus of cells.
c. %escribe the structure of "2A.
%. sho$ that genes $ere ma%e of "2A.
5e. %evelop a metho% for se#uencing "2A.
3. 8hich of the follo$ing is not a component $ithin a single nucleoti%e of a
nucleic aci%6
a. nitrogenous base
b. sugar
5c. pol&merase
%. phosphate
!i"" in the '"an(
3!. 'ioin)or*atics is a fiel% in genetics that combines molecular biolog& an%
computer science.
3'. A measurable or observable trait or characteristic is calle% a>n? %henot+%e,
3). The complete genetic ma.eup of an& organism is its geno*e.
3*. A form of a gene that has a slightl& %ifferent se#uence than other forms of
the same gene but enco%es the same t&pe of an 12A or protein- is calle% a>n?
a""e"e.
4,. E-o"ution is a change in allele fre#uenc& of a population over time.
7ntro%uction to Genetics
41. Permanent- heritable changes in genetic information >"2A? are calle%
*utations.
42. 8ithin cells- genes are locate% on structures calle% chro*oso*es.
#PP.IC#TION QUESTIONS #N/ PRO'.EMS
Short #ns$er
43. 8rite a paragraph e(plaining $h& genetics is consi%ere% a &oung science-
even though people have been appl&ing genetic principles for thousan%s of
&ears.
(0) Techni1ues )or the obser-ation o) ce""s ha-e been a-ai"ab"e on"+ since
the "ate 0233s& $hen the )irst *icrosco%es $ere %roduced,
(4) The obser-ation o) chro*oso*es has been %ossib"e )or on"+ a centur+
and a ha"),
(5) The $ides%read s+ste*atic stud+ o) genes and inheritance has been
conducted on"+ in the t$entieth centur+& since the redisco-er+ o)
Mende"6s $or( in 0733,
(8) The structure o) /N# $as deter*ined on"+ in the *id9t$entieth
centur+,
(2) Man+ *o"ecu"ar genetic techni1ues& "i(e PCR& ha-e been de-e"o%ed
on"+ in the "ast )e$ decades,
(:) Ho$e-er& $ithout understanding the nature o) chro*oso*es and
genes& %"ant and ani*a" breeders ha-e been a%%"+ing the %rinci%"es o)
inheritance )or thousands o) +ears& to obtain desired characteristics in
do*esticated organis*s,
44. @ist some traits of a species that ma.e it i%eal as a genetic mo%el organism.
(0) Short generation ti*e
(4) Su))icient& but not e;cessi-e& nu*bers o) %rogen+ )or stud+
(5) #da%tabi"it+ to a "aborator+ en-iron*ent
(8) #bi"it+ to be ine;%ensi-e"+ housed and %ro%agated
(2) S*a"" si<e
4. 8hich features %istinguish a pro.ar&otic cell from a eu.ar&otic cell6
Pro(ar+otic ce""s "ac( a nuc"ear *e*brane and %ossess no true *e*brane9
bounded ce"" organe""es& $hereas eu(ar+otic ce""s %ossess a nuc"eus and
*e*brane9bounded organe""es such as ch"oro%"asts and *itochondria,
Chapter 1
4!. @ist an% %escribe t$o significant events in the histor& of genetics that
occurre% %uring the t$entieth centur&.
(0) 0733= Mende"6s %re-ious"+ %ub"ished $or( on %ea %"ants& $hich stated
basic %rinci%"es o) inheritance& $as redisco-ered,
(4) 0734= Sutton %ro%osed that genes are "ocated on chro*oso*es,
(5) 0703= Tho*as Hunt Morgan began studies o) trans*ission genetics&
using )ruit )"+ *utants,
(8) 0753s= !isher& Ha"dane& and >right out"ined the )ounding %rinci%"es o)
%o%u"ation genetics,
(2) 0783s= Organi<ation o) chro*oso*es and genes studied using bacteria
and -iruses,
(:) 0783s?0723s= E-idence accu*u"ated )or /N# as the genetic *ateria"@
>atson and Cric( described /N# structure,
(A) 07::= Re"ationshi% bet$een che*ica" structure o) /N# and a*ino acid
se1uence o) %roteins deter*ined,
(B) 07A5= !irst reco*binant /N# e;%eri*ents
(7) 07AA= Gi"bert and Sanger *ethods )or /N# se1uencing %ub"ished,
(03)07B:= Mu""is de-e"o%s PCR,
(00) 0773= !irst use o) gene thera%+ in hu*ans,
(04)0773s= Hu*an Geno*e ProCect started,
(05)0772= !irst geno*e o) a )ree9"i-ing organis* se1uenced (Haemophilus
influenzae),
(08)077:= !irst geno*e o) a eu(ar+ote se1uenced (+east),
(02)4333?%resent= Hu*an geno*e se1uence re"eased,
4'. 8hat common features of here%it& suggest that all life on Earth evolve% from
a common ancestor6
/es%ite the re*ar(ab"e di-ersit+ o) "i)e on Earth& a"" geno*es are encoded
in nuc"eic acids, >ith )e$ e;ce%tions& the genetic code is co**on to a""
)or*s o) "i)e, !ina""+& the %rocess b+ $hich genetic in)or*ation is co%ied
and decoded is re*ar(ab"+ si*i"ar )or a"" )or*s o) "i)e,
4). 8hat common3sense observation ma.es the theor& of preformationism
unli.el&6
Pre)or*ationis* states that the egg or s%er* carries a *iniature adu"t&
$hich $ou"d *ean that a"" characteristics co*e )ro* either the *other or
)ather, Si*%"e obser-ation sho$s that o))s%ring ha-e traits )ro* both
%arents,
7ntro%uction to Genetics
4*. 8hat common3sense observation ma.es the theor& of ac#uire%
characteristics unli.el&6
This theor+ states that characteristics ac1uired during one6s "i)eti*e are
%assed to o))s%ring, Ho$e-er& anato*ica" changes& "i(e the "oss o) a "i*b&
or the re*o-a" o) a *ouse6s tai"& are not seen in o))s%ring,
,. 8hat common3sense observation ma.es the theor& of blen%ing inheritance
unli.el&6
This theor+ states that genetic in)or*ation is *i;ed in an o))s%ring and
ne-er se%arated, So*e traits& ho$e-er& disa%%ear )ro* one generation to
the ne;t& on"+ to rea%%ear in a subse1uent generation,
1. 8h& might bacteria an% viruses be goo% mo%el organisms for stu%&ing the
basics of inheritance6 "escribe t$o a%vantages over stu%&ing genetics in mice-
%ogs- or humans.
(0) The+ ha-e /N# organi<ed into genes& Cust "i(e other organis*s& so the
basics o) inheritance are the sa*e in bacteria and -iruses& as in other
organis*s,
(4) Their genetic s+ste*s are si*%"e= the+ ha-e )e$er genes& )e$er
chro*oso*es& and "ess /N#,
(5) The+ re%roduce *ore 1uic("+= the generation ti*e is shorter than )or
*ice& dogs& or hu*ans,
(8) The+ are eas+ to gro$ (ta(e u% "ess s%ace& ha-e "ess co*%"icated
nutritiona" needs) than -ertebrates,
2. Albinism is rare in most human populations- occurring at a fre#uenc& of about
1 in 2,-,,, people. +o$ever- the trait occurs at a fre#uenc& of 1 in 2,, in certain
+opi villages of /lac. Mesa in Ari:ona.
>a? E(plain in terms of natural selection $h& albinism is so rare in most human
populations.
In *ost %o%u"ations& there is )air"+ strong se"ection against a"binis*
because a"binos donDt %roduce *e"anin& causing their s(in ce""s not to be
%rotected )ro* the da*aging e))ects o) sun"ight, #"so& the "ac( o) *e"anin
in their e+es causes the* to ha-e %oor e+esight, !ina""+& in *ost cu"tures
a"binos are seen as abnor*a"& and the+ are not nor*a""+ sought out )or
*arriage and *ating, There)ore& in *ost %o%u"ations the a""e"es that cause
a"binis* are se"ected against& and the+ decrease in )re1uenc+ or are (e%t at
a "o$ "e-e"& causing the recessi-e trait to be rare,
>b? E(plain in terms of natural selection $h& the trait is so much more common
among the +opis of /lac. Mesa.
Chapter 1
#"binos occu%+ a %ri-i"eged %osition a*ong the Ho%is o) '"ac( Mesa, In
this cu"ture& a"binos are -ie$ed as es%ecia""+ %rett+& c"ean& and inte""igent&
and the+ o)ten occu%+ %ositions o) "eadershi%, #"binos are ce"ebrated in
the -i""ages as a sign o) %urit+ o) Ho%i b"ood in the co**unit+,
!urther*ore& a"binos are o)ten e;cused )ro* nor*a" *a"e "abor because o)
their sensiti-it+ to sun"ight& causing the* to be "e)t behind in the -i""age
$ith the $o*en during the da+ti*e, This a""o$s the* e;tra *ating
o%%ortunities co*%ared to the other *en o) the -i""age, There)ore& the
a""e"es that cause a"binis* are either se"ected )or in this cu"ture or at "east
not se"ected against as strong"+ as in other cu"tures& a""o$ing the trait to
occur at a *uch higher )re1uenc+,
>c? 7n light of this e(ample an% others that &ou might be a$are of- criti#ue the
i%ea that a particular allele is either beneficial >a%aptive? or harmful
>mala%aptive?.
This e;a*%"e and others sho$ that the e))ect o) a %articu"ar a""e"e cannot
be e-a"uated outside o) the conte;t o) the en-iron*ent o) the %o%u"ation in
$hich the a""e"e e;ists, # %articu"ar a""e"e *ight be har*)u" in one
en-iron*ent but bene)icia" in another en-iron*ent, #"though $e (no$ o)
so*e a""e"es that see* to be har*)u" in a"" current en-iron*ents& the+
*ight ha-e been bene)icia" in the %ast or *ight be in the )uture,
3. >a? "escribe one $a& in $hich %iscoveries in genetics currentl& impact &our
%ail& life apart from this course.
#ns$ers $i"" -ar+& but the best ans$ers $i"" inc"ude one or *ore s%eci)ic
disco-eries in genetics and describe ho$ the+ a))ect the student
%ersona""+, E;a*%"es cou"d co*e )ro* those "isted in section 0,0 or )ro*
the studentsD bac(ground (no$"edge, This 1uestion and %arts (b) and (c)
$i"" $or( best i) students are as(ed to consider ahead o) ti*e ho$ these
disco-eries *ight i*%act their "i-es,
!or e;a*%"e& students *ight discuss the ro"e o) genetics and genetic
techno"og+ in the Green Re-o"ution o) the 0723s and 07:3s& $hich great"+
e;%anded )ood %roduction throughout the $or"d& *a(ing )ood *ore
e))icient& *ore a))ordab"e& and *ore a-ai"ab"e to $or"d %o%u"ations, #
*uch s*a""er %art o) the $or"dDs %o%u"ation $or( in agricu"ture& )reeing u%
*ore %eo%"e )or $or( in other industries, The+ *ight a"so discuss the use
o) genetica""+ *odi)ied cro%s in agricu"ture& inc"uding a signi)icant
%ro%ortion o) corn and so+beans in the United States and other countries,
>b? "escribe one $a& in $hich %iscoveries in genetics $ill li.el& impact &our life in
the future >apart from $hat &ou %iscusse% in part >a??.
7ntro%uction to Genetics
#n e;a*%"e $ou"d be the use o) genetic tests in *edica" %ractice, Genetic
tests are a"read+ )air"+ co**on%"ace and $i"" beco*e *ore co**on in the
near )uture, In the )uture& *ost %eo%"e $i"" be o))ered one or *ore genetic
tests as %art o) their ordinar+ *edica" care, The+ $i"" need to understand
the basis o) the tests and their "i*itations& as $e"" as ho$ to inter%ret
resu"ts and ho$ to use the in)or*ation %ro-ided,
>c? "escribe a %iscover& in genetics or an area of current research that &ou are
concerne% about that might have a negative impact on &our life in the future.
E(plain $h& &ou thin. it might have a negative impact on &ou personall&.
#gain& ans$ers $i"" -ar+& but an e;a*%"e is the %ossib"e abuse o) genetic
in)or*ation about indi-idua"s that is beco*ing *ore a-ai"ab"e, Man+
%eo%"e $orr+ that resu"ts )ro* genetic tests& )or e;a*%"e& cou"d be used to
discri*inate against indi-idua"s in the $or(%"ace and in the insurance
*ar(et%"ace, The Genetic In)or*ation Nondiscri*ination #ct o))ers "i*ited
%rotection against genetic discri*ination& but the %ossibi"it+ o) negati-e
conse1uences )ro* such tests re*ains,
4. The fruit fl& 'rosophila melanogaster is an important mo%el s&stem for
stu%&ing inheritance in animals an% genetic control of animal %evelopment-
inclu%ing humans.
>a? 7f researchers ultimatel& $ant to un%erstan% a biological process in humans-
$h& might the& $ant to stu%& the process in fruit flies first6
Researchers *ight $ant to stud+ the %rocess in )ruit )"ies )irst because it
$ou"d "i(e"+ be easier to stud+ it in )ruit )"ies& and $hat is disco-ered in )ruit
)"ies *ight a%%"+ to hu*ans, !ruit )"ies ha-e been de-e"o%ed )or o-er 033
+ears to be used as a *ode" s+ste* )or ani*a" genetics and de-e"o%*ent,
>b? Evaluate fruit flies as a mo%el s&stem for human biolog&. 8hat are their
strengths an% $ea.nesses as a mo%el s&stem6
Strengths ? !ruit )"ies ha-e %ro-en to be an e;ce""ent *ode" s+ste* )or
stud+ing as%ects o) bio"og+ that the+ share $ith hu*ans, !ruit )"ies are
si*%"er in structure and %h+sio"og+ than hu*ans and ha-e a *uch si*%"er
geno*e, The+ are s*a"" and eas+ to raise& the+ ha-e a short generation
ti*e& and the+ %roduce a "arge nu*ber o) o))s%ring, Their chro*oso*es
ha-e been *a%%ed and their geno*es ana"+<ed e;tensi-e"+, It is re"ati-e"+
eas+ to iso"ate and stud+ *utants that are de)ecti-e in s%eci)ic %rocesses
o) interest, These characteristics *a(e the* idea" )or genetic studies o)
bio"ogica" %rocesses,
>ea(nesses ? So*e as%ects o) )ruit )"+ genetics and de-e"o%*ent are not
shared $ith hu*ans, There)ore& so*e )eatures disco-ered in )ruit )"ies $i""
Chapter 1
not a%%"+ direct"+ to hu*ans, #"so& hu*ans ha-e *an+ )eatures that )ruit
)"ies "ac(, !ruit )"ies $i"" not ser-e $e"" as a *ode" s+ste* )or stud+ing
these )eatures o) hu*an bio"og+,
. Man& goo% i%eas in science ultimatel& turn out to be incorrect. The author
mentions several such i%eas in the histor& of genetics.
>a? 0tate in &our o$n $or%s one i%ea in the histor& of genetics that turne% out to
be incorrect.
#ns$ers $i"" -ar+ but *ight inc"ude %angenesis& inheritance o) ac1uired
characteristics& %re)or*ationis*& or b"ending inheritance& $hich are a""
described on %ages B and 7 o) section 0,0,
Pangenesis ? The idea that in)or*ation needed to encode each bod+
structure is stored in that structure and trans%orted to the re%roducti-e
organs and %assed to the e*br+o at conce%tion,
Inheritance o) ac1uired characteristics ? The idea that traits ac1uired
through use during oneDs "i)eti*e can be %assed to oneDs o))s%ring,
Pre)or*ationis* ? The idea that the s%er* or egg carries a tin+ %re)or*ed
%erson $hose de-e"o%*ent si*%"+ in-o"-es en"arge*ent,
'"ending inheritance ? The idea that the genetic *ateria" is a )"uid that gets
b"ended during se;ua" re%roduction bet$een a *a"e and )e*a"e& resu"ting
in the %roduction o) traits in the o))s%ring that are b"ended inter*ediates o)
those o) the %arents,
>b? 8h& %o &ou thin. this particular i%ea $as $i%el& accepte% b& scholars of that
time6 7nclu%e in &our ans$er some evi%ence in favor of the i%ea- observations
that seeme% to support the i%ea- or other rationale for accepting the i%ea.
#ns$ers $i"" -ar+ but shou"d inc"ude s%eci)ic e-idence or obser-ations
that su%%ort the idea, E;a*%"es=
Pangenesis ? It is reasonab"e to assu*e that the in)or*ation needed to
bui"d a structure *ust reside in that structure, It is "ess ob-ious that the
in)or*ation *ight a"so reside in other structures, There)ore& it is
reasonab"e to en-ision the in)or*ation being stored in each structure and
trans%orted to the re%roducti-e structures be)ore being %assed to the ne;t
generation,
Inheritance o) ac1uired characteristics ? Obser-ations to su%%ort this -ie$
$ou"d ha-e been co**on%"ace, !or e;a*%"e& a *an $ith a *uscu"ar
7ntro%uction to Genetics
%h+si1ue $ou"d o)ten ha-e sons $ith *uscu"ar %h+si1ues, # ta"ented
*usician o)ten %roduced chi"dren $ith *usica" ta"ent,
Pre)or*ationis* ? It $ou"d ha-e been hard )or %eo%"e be)ore the "ate 0B33s
to i*agine ho$ a co*%"e; organis* cou"d bui"d itse") )ro* a sing"e
undi))erentiated ce"", Indeed& the %rob"e* has occu%ied de-e"o%*enta"
bio"ogists )or o-er 033 +ears, Pre)or*ationis* is easier to understand,
#dd to that the %oor o%tics o) *icrosco%es at that ti*e& and it is eas+ to
understand ho$ ear"+ bio"ogists *ight ha-e thought the+ cou"d see a
%re)or*ed %erson in a s%er* or an egg& such as the dra$ing sho$n in 0,00,
'"ending inheritance ? !or e;a*%"e& a *ating bet$een a ta"" %erson and a
short %erson %roducing a %erson o) *ediu* stature *ight ha-e suggested
b"ending inheritance,
>c? 0ummari:e the evi%ence that ultimatel& cause% the i%ea to be reAecte% b&
mo%ern geneticists.
#ns$ers $i"" -ar+ but shou"d inc"ude s%eci)ic e-idence or obser-ations
that do not su%%ort the idea,
Pangenesis ? Obser-ations o) ani*a"s $ith bod+ %arts "ost to inCur+
%roducing nor*a" o))s%ring $ou"d not su%%ort %angenesis,
Inheritance o) ac1uired characteristics ? E;%eri*ents $ere conducted in
$hich bod+ %arts $ere re*o-ed and nor*a" o))s%ring $ere %roduced&
sho$ing that the ac1uired characteristic $as not inherited, #"so&
e;%eri*ents in $hich o))s%ring are raised in an en-iron*ent di))erent )ro*
that o) their %arents and do not de-e"o% their %arentsD traits $ou"d suggest
that the en-iron*ent in)"uences de-e"o%*ent o) these traits,
Pre)or*ationis* ? E-entua""+ better *icrosco%es $ere %roduced that
%ro-ed that ga*etes do not contain %re)or*ed %eo%"e, #"so& $e e-entua""+
ca*e to understand that both s%er* and eggs contribute genetic
in)or*ation during se;ua" re%roduction,
'"ending inheritance ? Mende" sho$ed that genes beha-e as %artic"es that
are not b"ended or changed during inheritance,