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BIOL 221
Exam-1
2/10/16
Instructions:
• This is a closed-book exam. We will observe the Code of Academic Integrity. Please
sign the pledge below.
• Answer all questions.
• If appropriate, show your work, but highlight your final result or conclusion

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• Write all answers concisely and legibly in the space provided. If we can’t read your

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answers, we can’t award you any credit for them.

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• Write your answers in PEN. Exams completed in pencil cannot be considered for re-

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grading.

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• Just a reminder. Dilution of a correct answer with erroneous text always leads to less
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• Time: You have until 8:30 PM to complete this exam.
• Note: We have written most geneallele combinations in a gene[allele] style in order to
make the allele designation more visible as a larger font.
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I pledge my honor that I have upheld the Code of Academic Integrity of the University of
Pennsylvania in completing this exam.
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Signature

page points
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Total:

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 BIOL 221 Exam-1

1. If a diploid individual with the genotype A/a; B/b; D/d; E/E; G/g is crossed with
an individual of the genotype a/a; B/b; D/d; e/e; G/g (6 points)

a. What proportion of the progeny would be a/a; b/b; d/d; E/e; g/g ? Please show your work.

(1/2)(1)•(1/2)(1/2)•(1/2)(1/2)•(1)(1)•(1/2)(1/2) = 1/128

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b. What proportion of the progeny would be a/a; b/b; d/d; e/e; g/g ? Please show your work or

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give an explanation.

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One organism is without a recessive allele
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2. You used the Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and
genetic disorders - to investigate the disease Phenylketonuria (PKU). What is the molecular
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defect in PKU? (two sentences or less)

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(5 points)

PKU results from a deficiency of phenylalanine hydroxylase, an enzyme that catalyzes the
hydroxylation of phenylalanine to tyrosine, the rate-limiting step in phenylalanine
catabolism.

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 BIOL 221 Exam-1

3. The table below describes two independently assorting Drosophila genes that contribute to
bristle shape and to male survival. Recall that the male-specific lethal (msl) genes are
required for Drosophila dosage compensation. Both genes are haplosufficient. Both null
alleles are recessive to the normal allele. You crossed an msl male with wild-type bristles to
a homozygous msl female with forked bristles. (15 points)

gene chromosome allele phenotype

forked X + straight bristle
f (null) split bristle
msl 3 + viable
msl (null) male lethal; female viable

a. What fraction of the female F1 fly progeny will have forked bristles?

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none

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b. What fraction of the male F1 fly progeny will have forked bristles?
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100%
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c. What fraction of the total F1 fly progeny will have normal bristles?

2/3
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Bear in mind that msl/msl males are not viable

f/f ; msl/msl x +/Y ; msl/+
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+ ; msl +;+ Y ; msl Y;+

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f ; msl f /+; msl/msl f/+ ; msl/+ f/Y ; msl/msl f/Y ; msl/+

viable viable nonviable viable
female female male male

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 BIOL 221 Exam-1

4. In humans, Hunter syndrome is known to be an X-linked trait with complete penetrance. A

family with two phenotypically normal parents produced the following children:
• a normal daughter
• a daughter with Hunter syndrome
• a son with Hunter syndrome

a. Use the pedigree below to fill in the sex chromosome genotype for each individual. Use
X[+] to represent an X-chromosome carrying a normal allele and X[hs] to represent an X-
chromosome carrying a mutant allele that results in Hunter syndrome. (5 points)

+ hs +
XX XY

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+ hs hs hs

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another correct answer is possible: the daughter has Turner syndrome and X(hs)0 genotype. The
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nondisjunction would have occurred during meiosis I or II in the father.

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b. In which parent(s) and during which meiotic division did the nondisjunction event(s) take
place that resulted in the genotype of the daughter with Hunter syndrome? (8 points)
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• The daughter received two Xhs chromosomes from her heterozygous mother (X
Xhs) after a nondisjunction event during meiosis-II.
• In addition, the daughter did not receive an X-chromosome from her father
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because a nondisjunction event also occurred during spermatogenesis. However,

it is not possible to determine which meiotic division suffered the nondisjunction
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event.
• (Another possible answer: the daughter has Turner syndrome and X(hs)0
genotype. The nondisjunction would have occurred during meiosis I or II in the
father.)

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 BIOL 221 Exam-1

5. Although tortoiseshell cats are almost always females, male tortoiseshell cats are seen
occasionally. Propose a genetic mechanism and the associated genotypes for the appearance
of male tortoiseshell cat produced from an orange female and a black male mating.

You must use nomenclature in the Table below, incorporating the "org" and "blk"
designations, to clearly distinguish between alleles of the orange gene:

Gene Allele Phenotype

orange orange[org] orange fur
orange[blk] black fur

Note that the processes of sex determination and dosage compensation are identical in humans and cats. Note
also that new mutations in the orange gene occur at a far lower of a frequency (1 in 10-6) than the observed
frequency of male tortoiseshell cats (1 in 10-2). Therefore, a newly arising mutation in the orange gene is a very
unlikely explanation.

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a. What is the orange gene genotype of the male tortoiseshell OFFSPRING? (4 points)

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orangeorg / orangeblk; Y

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An unlikely, but formal) possibility:
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orangeorg / orangeblk with SRY translocation onto paternally inherited X

b. What is the orange gene genotype of the FEMALE parent? (4 points)

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orangeorg/orangeorg
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c. What is the orange gene genotype of the MALE parent? (4 points)

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orangeblk; Y
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d. Propose a genetic mechanism that will explain the genotype of this unusual male offspring.
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Be as specific as you can. (4 points)

nondisjunction during meiosis-I in the male germline

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 BIOL 221 Exam-1

6. The pedigrees below were the first to show inheritance of low-frequency (<8 kHz) hearing
loss by testing two unrelated Dutch families (Pennings et al., 2003).

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Figure 1. Pedigrees of the Dutch III and Dutch IV kindreds. Squares indicate men; circles, women; slashed
symbols, deceased; crossed symbols, Duchenne-type muscular dystrophy; diamond symbol, number of unaffected

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siblings; and solid symbols, low-frequency hearing impairment.
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A few more details:
• The hearing phenotypes of deceased individuals are unknown except for Family IV-
member III:2 who was known to have low-frequency hearing loss.
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• Four individuals in Family III and 9 in Family IV showed low-frequency hearing

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impairment. The Family IV kindred also harbored a Duchenne-type muscular dystrophy

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trait; according to family history, 3 affected boys (Figure 1) without hearing impairment
died at a young age.

a. Is the low-frequency hearing loss condition most likely inherited as an X-linked,

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autosomal or mitochondrial trait? Circle your choice. In the space provided, defend your
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answer by citing evidence for your conclusion and evidence that eliminates each of the
other possibilities. (6 points)
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• X-linked inheritance
Not X-linked because fathers can pass it to sons.
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Also possible to rule out X-linked dominant and recessive cases individually.

• Autosomal inheritance
Correct;
Traditional Mendelian inheritance, not biased towards a sex

• Mitochondrial inheritance
Not passed exclusively through the maternal line

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 BIOL 221 Exam-1

Q6 continued…

b. Is the low-frequency hearing loss condition most likely inherited as a dominant or

recessive trait? Circle your choice. In the space provided, defend your answer by citing
evidence for your conclusion and evidence that eliminates the other possibility. (6
points)

• Dominant trait
Correct and justify INCLUSION

• Recessive trait

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Unless information in the pedigree indicates otherwise, for recessively inherited traits,

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most unrelated individuals will not be carriers

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c. Although Family IV-member IV:9 is deceased, what is the probability that he showed low-
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frequency hearing loss? Show your work. (2 points)

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0.5
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d. Since this type of hearing loss is age-related, newly born Family IV-member V:5 has yet to
be tested. What is the probability that he will eventually show low-frequency hearing
loss? Note that his mother (Family IV-member IV:7) had a hearing test in a distant city
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but it was inconclusive. Thus, her hearing phenotype is unknown. Show your work. (2
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points)

0.5*0.5=0.25; note that IV:7 could be either dd or Dd

e. Two individuals (circled) are planning to marry in the summer. If the two families (III and
IV) have mutations in the same gene, what is the probability their first child will show
low-frequency hearing loss in the future? Show your work. (2 points)

0.75;

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 BIOL 221 Exam-1

7. Over the years, many geneticists working on different organisms have discovered “growth”
mutations that cause slow growth of the organism when heterozygous and lethality when
homozygous. Interestingly, most of these mutations turned out to be null mutations in
autosomal genes.

a. You are working with one of these growth mutations described above in the Drosophila
model system. Predict the phenotype (normal or mutant) of groX[null] / groX[+]
heterozygotes if the groX gene is: (4 points)

1) haplo-sufficient normal phenotype

2) haplo-insufficient mutant phenotype

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b. If you think about it, maintaining a stock of flies containing a null mutation with a

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homozygous lethal phenotype is interesting. When you cross groX[null] / groX[+] flies

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together, what are the expected genotypes and their proportions in the progeny? (4
points)
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groXn/ groX+ x groXn/ groX+
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groXn/ groXn groXn/ groX+ groX+/ groX+

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1 2 1
0 2 1
(lethal) small normal
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c. Since the groX[null] mutation results in small flies when heterozygous, what are the
phenotypes and their proportions expected from the cross described in (b) above? (4
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points)
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 BIOL 221 Exam-1

8. You are monitoring the inheritance patterns of two traits in mice: eye color, which can be red
or yellow, and ears that can be straight or twisted. You cross a pure-breeding red-eye,
straight-eared male with a pure-breeding yellow-eyed, twisted-eared female and find that all
F1 offspring have red eyes and twisted ears. (15 points)

You decided to test-cross the F1 animals to determine their genotype.

a. What is the genotype of the tester mouse strain you will use for this? Assume there are
two independently assorting genes involved: eyecolor (eye) and earshape (ear).
Specify the complete genotype (define alleles for each gene) and phenotype of the
tester strain mice.

tester genotype: eyeyel/eyeyel ; earstr/earstr

tester phenotype: yellow eyes and straight ears

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b What are the expected phenotypes and proportions of the testcross progeny?

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red eye and twisted ear (1)

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red eye and straight ear (1)
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yellow eye and twisted ear (1)
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yellow eye and straight ear (1)

You found a report in an old journal of an ear-shape gene with a similar phenotype that
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mapped to the X-chromosome. Describe the cross(es) you would perform to determine if the
ear shape locus is X-linked. Indicate the results you would expect if it were indeed on the X
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chromosome.
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c. specify the genotype(s), phenotype(s) and gender of the mice you would cross
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There are several possibilities here. For example, cross an original eye+/eye+ ; earstr/ earstr
female with an ear+/ear+ male.
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d. If the ear-shape gene were X-linked, what are the phenotype(s), gender(s) and proportions
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of the expected progeny.

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All male progeny will express the ear phenotype of the female parent

e. If the ear-shape gene were autosomal, what are the phenotype(s), gender(s) and
proportions of the expected progeny.

Male progeny will express the normal (twisted) phenotype of the male parent
*We cannot have a heterozygous male here because the male is true breeding. If we
allow for the possibility of heterozygosity then the question makes no sense because
we know it is autosomal.

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