Genome 361 – Exam 1 Spring 2022

This exam is open-note, open book, and open internet. However, this exam must be completed
solely by you, with no input from other individuals, including via text, email, discord or any
other source of online or in-person communication. Affirm that you will follow this rule by
adding your name below.
Name here: _____________________

Question 1 (8 points)
You are studying the genetic basis of the absence of fingerprints
(adermatoglyphia) and encounter the pictured family. II-2 and
II-3 are expecting their third child. You can assume that II-3
does not have any alleles for the trait.

A. Based on this family alone, which modes of inheritance

are possible (circle all possible)?

Autosomal dominant.
Autosomal recessive
X-linked dominant
X-linked recessive

B. III-3 is born and is a boy with fingerprints. Does this

change your answer? If not, why not? If so, what would you
change and why? Explain in 1-3 sentences.

Question 2 (22 points)

Featherless chickens are caused by a recessive mutation in the FGF20
gene that leads to a shortened protein. This is the sequence of a
portion of the middle of the wildtype (wt) FGF20 ORF (don’t worry
about introns for this gene):

5’ AAGGTCCAAAAGACACCAG 3’
3’ TTCCAGGTTTTCTGTGGTC 5’

And the sequence of the mutant FGF20 gene (mutated base pair
bolded):

5’ AAGGTCCAAATGACACCAG 3’
3’ TTCCAGGTTTACTGTGGTC 5’
A. Which strand is the coding strand? Top Bottom

B. Write out the amino acid sequence of the wt allele. A codon table can be found on the last
page of the exam.

C. Another chicken named Opal has been discovered that is homozygous for a novel serine
tRNA whose anticodon matches the UGA stop codon. This is also the result of a single
base pair change vs the wt tRNA sequence. Opal has normal feathers.

Write the RNA sequence of the tRNA’s anticodon in Opal and in wt chickens. Be sure to
indicate 3’ and 5’.

Opal:
wt:

D. You hypothesize that this mutant tRNA will:

• Rescue the effects of the FGF20 mutation in the featherless chickens by reading
through the premature stop codon (similar to quiz section 1)
• Act in a dominant manner.

You cross Opal to a featherless chicken. All the progeny have feathers. Next you cross
the progeny to each other. If your hypothesis is correct, what ratio of feathered to
featherless do you expect? Note that the tRNA gene and FGF20 are autosomal and on
different chromosomes. Explain or show your work for credit.

E. You identify another featherless chicken with a different mutation in the same region of
FGF20: (4 points)

5’ AAGGTCCAAAAGACACTAG 3’
3’ TTCCAGGTTTTCTGTGATC 5’

Do you predict that this mutation will also be rescued by Opal’s mutant tRNA? Why or
why not?
Question 3 (6 points)
Professor Patel collects blue morpho butterflies. Butterfly 1 is a normal male specimen
(chromosome content XX) and butterfly 2 is a normal female (XO). Butterflies 3-6 are the result
of chromosome nondisjunction events.

A. What kind of chromosome nondisjunction event can explain butterflies 3 and 4? (choose
one)

Mitotic Meiotic Could be either

B. In 2-3 sentences, propose a hypothesis for why butterfly 3 and butterfly 6 look different
from each other.

Question 4 (5 points)
Recall the pedigree below from lecture 4, which showed individuals filled in if they were
affected by an autosomal dominant form of ovarian cancer. In 2-3 sentences, explain why this
pedigree is inconsistent with an X-linked dominant form of ovarian cancer.
Question 5 (14 points)
Scientists recently discovered a wild female condor that
reproduced asexually without a male partner. This process,
known as parthenogenesis, occurs very rarely in birds, and
results from two daughter cells fusing at the end of meiosis II.

The genotypes below were recorded for the female and two of
her chicks, at least one of which was produced via
parthenogenesis. Each gene is located near the centromere of its autosomal chromosome where
no crossing over occurs. Assume no mutations have occurred in these genes.
Gene A Gene B Gene D
Female Aa BB Dd
Chick 1 aa BB dd
Chick 2 AA Bb dd

A. Which chick(s) was/were produced via parthenogenesis? (choose one)

Chick 1 Chick 2 Both Cannot determine

B. Which two daughter cells labeled in the diagram below could have fused to produce the
chick(s) born via parthenogenesis in part A. (Choose only two, even if more than one
combination may be possible)

1 2 3 4

Explain your reasoning in 2-3 sentences.

C. In birds, sex is determined by sex chromosomes Z and W. Females are the heterogametic
sex (ZW) and males are homogametic (ZZ). What is the sex of each chick?

Chick 1 (circle one): female male cannot determine

Chick 2 (circle one): female male cannot determine

Question 6 (20 points)
The affected individual in the pedigree below (indicated by the filled in shape) was diagnosed
with Bloom syndrome, one of the few cancer syndromes that is inherited in an autosomal
recessive pattern. Juhee’s parents have been genotyped for the disease and their results are
included on the pedigree. “D” indicates the dominant allele and “d” indicates the recessive allele.
Assume no non-disjunction has occurred.

A. Mark and Juhee are about to have a child, but because both of their families have a history of
Bloom syndrome they are worried their child might develop it too. What is the probability
that Mark and Juhee are both heterozygous carriers of the disease? Show your work for
credit.

B. Mark and Juhee are not reassured by the answer in part A, and now want to know how likely
their child will not be a carrier or have the disease. What is the probability that their child’s
genotype will be DD? Show your work for credit.

C. Which individual(s) in the pedigree would share mitochondrial DNA with Mark and Juhee’s
child?
Question 7 (25 points)
Emily attended her first pigeon breeding show and now wants to start up the hobby of pigeon-
breeding. At the show, Emily was gifted a crested and slipper pigeon to start her breeding
program. The slipper allele (A) is dominant to the WT allele (a) and the crested allele (b) is
recessive to the WT allele (B). Both loci are autosomal.

A. Write out all possible genotypes of each pigeon.

Crested_______________

Slipper_______________

B. Emily mates these two pigeons and in the first year they only have a few offspring, none
of which have slippers or crests (all are WT for both traits). Which genotype(s) listed in
part A are still possible for the slipper pigeon?

C. Emily mates these offspring together and over their lifetime observes the following
number of offspring in the second generation:

344 wild type

112 crested

Perform a chi-squared test to determine if this result is consistent with Mendel’s principle
of segregation.

(i) State your null hypothesis:

(ii) Show your calculation:

(iii) Number of degrees of freedom:

(iv) The range your p-value falls within: (a chi-squared table can be found on the last
page of the exam)

(v) A brief sentence interpreting your p-value. Include whether you should reject or fail
to reject the null hypothesis.