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PROBLEM SET

1. John’s paternal uncle died of a rare autosomal recessive disease, Disease X. “Wow,”
says John’s fiancée, “that is the same condition that my daughter from my first marriage
died from.” What is the likelihood that a child born to John and his fiancée will be
affected?

2. Mrs. Jones has a son, Tom, with Becker Muscular Dystrophy. She also has an unaffected
son, Brian, and a daughter, Missy. Missy has a healthy son. Mrs. Jones has three healthy
brothers and a sister. One of her brothers has two healthy sons, and the other two
brothers each have a healthy son and daughter. The fitness for Becker Muscular
Dystrophy has been estimated at 0.7. Mutation rates in male and female germ cells are
equal. Please calculate the chance that Mrs. Jones’ sister is a carrier for Becker Muscular
Dystrophy.

3. Assume you discover a new X-linked platelet antigen detected by a monoclonal antibody.
Heterozygous and homozygous positive females are antigen positive. You find 20% of
males to be antigen positive and 80% to be antigen negative. Assuming Hardy Weinberg
equilibrium, what percent of females would you predict to be antigen positive?

4. At a Little People of America conference, Mary and Tom meet and decide to marry.
Mary has diastrophic dysplasia, a rare autosomal recessive condition. Tom was attending
the conference to assist his first cousin, who also has diastrophic dysplasia. What is the
chance Tom and Mary’s first child will be born with this condition?

5. Mary has a brother with hemophilia A, and a brother who is unaffected. She also has a
healthy son, and a daughter, Jane. Jane would like to know what her chances are that she
is a carrier for Hemophilia A. Assume a fitness of 0.5 for affected males, and a mutation
rate of 5 times greater in males than in females.

6. Beth has a brother with Tay Sachs disease. Beth marries her first cousin. They have
three healthy children, but would like to know the chance that their new pregnancy could
be affected with Tay Sachs disease.

7. Sally has a son with Duchenne Muscular Dystrophy. She also has three other sons and
two daughters, and three sisters. What is the chance that Sally’s daughter will have a
child with DMD?

8. PKU affects approximately 1/10,000 newborns. What is the gene frequency for the PKU
allele?
9. What is the carrier frequency for PKU given the above incidence?

10. Tom and Mary (from the previous problem) go on to have 3 unaffected daughters. How
does this modify Tom’s risk of being a carrier? How might Mary’s risk for passing on a
mutant DTSTD gene be modified? If one of their daughters marries someone whose
sibling has diastrophic dysplasia, what would be the chance that this couple’s child will
be affected?

11. Martha marries George, whose brother has achondroplasia, a fully penetrant autosomal
dominant condition. What is the likelihood that George and Martha will have an affected
child?

12. There is a three-allele DNA polymorphism. A 10kb fragment has an allele frequency of
0.10; a 7kb fragment has an allele frequency of 0.10 and a 5kb allele fragment has an
allele frequency of 0.80. Assuming Hardy Weinberg equilibrium, what percent of
individuals should be heterozygous for this polymorphism?

13. Mrs. Baker comes to you for prenatal counseling. She is a 36 year old and you counsel
her that her risk to have a baby with Down syndrome is 1/178. She decides to have an
ultrasound, and it shows that the baby has choroids plexus cysts. You know that
approximately 1/1000 healthy babies has CPCs, but it is also associated with a 4% risk of
having a baby with Down syndrome. What do you counsel Mrs. Baker is her risk for her
current pregnancy to be affected with Down syndrome?

14. A couple comes to you for genetic counseling. The wife had two siblings that died from
spinal muscular atrophy type 1 (SMA1), an autosomal recessive disease with a
prevalence of approximately 1 in 20,000 livebirths. The husband reports a negative
family history. What is the probability that this couple will have a child with SMA1?

15. Mindy is considering pregnancy and comes for pre-conception counseling. She has five
siblings, including two brothers who died of Duchenne Muscular Dystrophy (X-linked
recessive). One of her brothers, Randy, is unaffected. Randy’s wife, who has no family
history of DMD, just delivered twin boys. Mindy also has two sisters. One sister, Lindy,
has one son affected with DMD and an unaffected daughter. The other sister, Cindy, has
two unaffected sons and an unaffected daughter. Mindy wants to know:
a. What is the chance her first child will be born with DMD?
b. What is the chance that Randy’s newborn sons will develop the condition?
c. Is there a chance that Cindy’s daughter is a carrier? What is it?
d. What is the chance that Lindy’s daughter is a carrier?