Name:_____________________________________

Penn ID #:______________________________

By signing my name below, I pledge my honor that I have upheld the Code of Academic
Integrity of the University of Pennsylvania in completing this examination.

SIGNATURE: __________________________________________

page possible actual

# points points
Directions:
There are 14 pages to this exam. The extra sheets at the end 2 13
contain Bayes theorem and can be used for scratch paper. Make
sure your exam is complete.
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You will have 75 minutes to complete this exam.

Do not write on the back of the exams. Answers written on the

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back of pages will not be graded!
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All answers must be provided in the space allotted following each
question. You may use the blank pages at the end of the exam as
scrap paper, however these pages will not be reviewed during 6 17
grading.

Please be short and concise with your answers. 7 7

Full credit will be awarded for correct answers that follow directions
and are not otherwise diluted with extraneous or erroneous
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information.
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Write your answers in PEN. Exams completed in pencil will not be
considered for regrade.
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100

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1) You are studying what is normally a rare disease in an inbred population. In this population, 2% of the
people have the disease. You have a test that allows you to diagnose the disease before symptoms
manifest themselves. This test gives a positive result for 90% of people who will develop the disease, but
also gives a positive result for 10% of people who dont actually have the disease. For any individual in
your population, what is the chance that they actually have the disease, given that the have gotten a
positive test result (4 pts)?

A. 80%
B. 25.5%
C. 10.5%
D. 35%
E 15.5%

2) The inheritance pattern shown at the right is most indicative of

what type of pedigree (3 pts)?

A. Y linked dominant
B. Autosomal dominant
C. X linked recessive
D. X linked dominant
E. Autosomal recessive

3) The Bombay phenotype is an example of (3 pts):

A. Synthetic lethality
B. Recessive epistasis
C. Dominant epistasis
D. Incomplete dominance
E. Germline mosaicism

4) Worker and queen bees are genetically indistinguishable. However, queen bees are fertile, larger and
have a longer lifespan than their female worker counterparts. Differential feeding of larvae with royal
jelly controls this caste switching. Recent research suggests that royal jelly contains a compound that
inhibits the activity of histone deacetylase (EMBO Rep. 2011 Mar;12(3):238-43. doi:
10.1038/embor.2011.9). This histone deacetylase inhibitor (HDACi) would most likely (3 pts):

A. Increase DNA methylation.

B. Increase the expression of genes that make the queen fertile.
C. Decrease the expression genes that inhibit fertility in bees.
D. Increase the amount of histone acetylation.
E. Act as a mutagen.

5) Disco disease is a recessively inherited condition where the afflicted persons face emits an unearthly
sparkle that causes passers-by to dance uncontrollably. The disease is caused by an amorphic mutation.

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If another copy of the mutant allele were added to the afflicted persons genome, this addition will most
likely (3 pts):

A. Worsen the mutant phenotype

B. Have no effect on the phenotype
C. Restore the phenotype to wild-type
D. Slightly alleviate the phenotype, without fully restoring it to wild-type
E. Cause lethality

6) A dominantly inherited form of disco disease changes the location of the sparkles on the persons
body, without changing the intensity of the sparkles. This is most likely the result of a/n (3 pts):

A. Amorphic mutation
B. Hypermophic mutation
C. Hypomorphic mutation
D. Neomorphic mutation
E. Antimorphic mutation

7) Which of the following is/are TRUE about epistasis testing (3 pts)?

A. Epistasis testing is most useful when done with hypomorphic alleles.

B. One is usually working with dominant alleles.
C. Usually the two mutations of interest produce different phenotypes.
D. It can reveal recessive lethality.
E. It can be used to determine the order of genes in a switch pathway.

8) A dominantly-inherited disease appears to skip generations on a pedigree, and therefore exhibits

what we think of as recessive character. Which of the following could possibly account for these
unexpected results (3 pts)?

A. Incomplete penetrance
B. Variable expressivity
C. The presence of an additional segregating mutation that is recessively epistatic to the disease
and masks the disease phenotype
D. Diet
E. None of the above

9) Which of the following correctly relate to dosage compensation (3 pts)?

A. A person with the genotype of XXXXY will have two Barr bodies.
B. In female Drosophila, both X chromosomes are active.
C. The XIST gene in humans contributes to X inactivation.
D. The Y chromosome in Drosophila determines maleness
E. In humans, gene expression from a pair of autosomes is roughly equivalent to the level of gene
expression from a single X chromosome.

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10) Sir Francis Galton believed in the theory of blending inheritance. In no more than 3 sentences, define
blending inheritance (2 pts).

Parental traits come together to form a new character in the F1 that is intermediate between the parents.
The parental traits are inextricable mixed in the F1

11) Mendels experiments with peas disproved blending inheritance. Draw out below specifically which
cross (or crosses) and the results of these crosses that conclusively disproved blending inheritance. Be
sure to indicate all genotypes (4 pts).

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12)

12a) With respect to the pedigree above, what is the most likely mode of inheritance (4 pts)?

Autosomal Recessive

12b) What is the probability that III-2 is a carrier (2 pts)?

100%

12c) What is the probability that IV-2 is a carrier (3 pts)?

2/3

12d) If a test-cross is performed with individual II-2, what will be the ratio of individuals with the trait
compared to those without (3 pts)? 1 to 1

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13) There are sensory bristles on the backs of wild-type flies (panel 1 above). You have isolated two
mutants (panels 2 and 3). Both of the mutant individuals have a mutation (in different regions- regions 1A
and 1B) in the promoter of the Glabra gene.

13a) Assuming that the individual in panel 2 is homozygous for a recessive allele of glabra with a
mutation in region 1A, indicate in one sentence what the most likely function is wild-type Glabra (3 pts)?

To promote bristle formation

13b) The individual in panel 3 is heterozygous for the promoter mutation 1B allele of Glabra. In one
sentence, indicate how this 1B mutation most likely affects gene function (3 pts).

It is a gain of function mutation

13c) What type of morph does the mutation in 1B most likely create (3 pts)?

Hypermorph

13d) If you were cross the fly in panel 2 to the fly in panel 3, what percentage of their offspring would
have the genotype 1A/1B (has one each of the mutant alleles of Glabra) (2 pts)?

1/2

13e) Would you expect the phenotype of the 1A/1B fly in 13d to be more or less wild-type than the fly in
panel 3 (3 pts)?

More

13f) Ignoring panel 2, if you were told that the mutant fly in panel 3 was homozygous for a loss of
function allele of glabra, what would this most likely indicate about the normal function of Glabra (3
pts)?

That it inhibits bristle formation

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14) The pedigree below shows the inheritance of Myotonic dystrophy, caused by a mutation in the DMPK
gene. The mutant allele of DMPK is indicated by the Exp notation in the chromosomal genotype; like
Huntingtons disease, Myotonic dystrophy is caused by a polynucleotide expansion; hence Exp stands
for expansion. The wild-type allele of DMPK is indicated by N for normal. 14a) Based on the results
of the polar body testing in shown in the figure below, list the oocytes that should have the wild-type N
allele (4 pts):

7, 9, 12, 14, 16, 22, 23

14b) If the couple in generation one (I-1 and I-2) wanted to have another child, would polar body testing
help them in avoiding passing on the Exp allele to their child? In 1-3 sentences , explain why or why not
(3 pts). No because it would come from the male. Polar bodies are only formed by females.

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14c) The Myotonic dystrophy disease phenotype is affected by the size of the expansion in the DMPK
gene, but not by the number of mutant alleles. Hence, for the same Exp allele, Exp/N=Exp/Exp. Indicate
what can you can conclude about dominance and expressivity of the Exp allele relative to the wild-type (3
pts):

There is variable expressivity, but it is a true dominant.

15) The Xg blood group system is controlled by a single gene, g, on the X chromosome. The Xg
system is in turn governed by two alleles, g0 and ga. Every individual human (male and female) is one of
two possible phenotypes, either Xg(a+) or Xg(a-), in all of the cells in his or her body.

The genotypes and phenotypes correspond as follows:

Males: Females:

Genotype Phenotype Genotype Phenotype

XgaY Xg(a+) XgaXga Xg(a+)

Xg0Y Xg(a-) XgaXg0 Xg(a+)

Xg0Xg0 Xg(a-)

In one sentence, explain what this inheritance pattern suggests about the regulation of expression at the
Xg locus (4 pts).

This locus on the X is not inactivated

16) In the experiment by Novick et al., they crossed haploid mutant yeast strains (sec mutants) to each
other to create diploids. In 1-2 sentences, indicate what information they gained by examining secretion in
the resultant diploids. What is this process called (4 pts)?

He determined how many genes were involved in secretion. Complementation testing.

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17) The pathway below has different default states in different cells, cells X and Y in mice. In cell X, the
default is for gene 1 to be ON, which causes cell X to produce the A fate. In contrast, in Y cells the
default is for 1 to be OFF and B fate develops.

17a) In mice homozygous for a null allele of gene 3, what will be the fate of X and Y cells (4 pts)?

A. Both will have the A fate

B. Both will have the B fate
C. X will have the B fate and Y will have the A fate.
D. Y will have the B fate and X will have the A fate.
E. There is not enough information to tell.

17b) Surprisingly, when cell X and cell Y are extracted from the organism and grown in synthetic media,
the default state for gene 1 in both cell types is to be ON instead of OFF. This suggests that (4 pts):

A. All cells in media are going to adopt the B fate.

B. Gene 5 will be off in all cells.
C. In Y cells, the expression of gene 1 is actively suppressed
D. The gene 1 locus is subject to epigenetic regulation
E. All of the above.

18) In the experiments done by Morgan on white-eyed flies, what specifically (1 sentence) could Morgan
conclude from the results of the cross shown below (4 pts)?
That female flies could have white eyes

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19a) Referring to the experiments by Calvin Bridges, indicate the genotype and sex of the fly with the
karyotype and phenotype shown below (4 pts)?

Xw Xw Y female

19b) In no more that 4 sentences, indicate what Bridges could conclude based upon the results above (3
pts).
He shouldve only gotten red-eyed females. The appearance of white-eyed females suggested non-
disjuction. The fact that all white eyed females showed the XXY karyotype supported the idea that genes
were on chromosomes and that the w gene was on the X

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