Biology 2C03: Genetics

Tutorial 5 – X inactivation and imprinting

1. Pedigree of a family with paragangliomas of the head and neck, also known as glomus tumors. “The tumors are
mostly benign and slow growing” (Heutink et al., 1992). What is the inheritance pattern of the disease presented in
the following pedigree? Determine the probability of “?” individuals to have the disease.

? ?

2. Pedigree of a family with congenital nystagmus (NYS). “NYS is an ocular oscillatory movement disorder caused
by a motor instability that can manifest with or without afferent visual system dysfunction” (Kaplan et al., 2011).
What is the inheritance pattern of the disease presented in the following pedigree? Determine the probability of
“?” individuals to have the disease. (Diamon shape is expected to be a boy)

?
 Biology 2C03: Genetics
Tutorial 5 – X inactivation and imprinting

3. Pedigree of a family with Beckwith-Wiedemann syndrome, which is a congenital (present from birth) growth
disorder that causes large body size, large organs, and other symptoms (Viljoen and Ramesar, 1992). What is the
inheritance pattern of the disease presented in the following pedigree? Determine the probability of “?”
individuals to have the disease.

4. Red-green color blindness is an X-linked recessive condition. Juliet has a bit of difficulty passing the red-green
color distinction test when she tries to get her driver's license. She has two children with a man who is not color
blind. Neither Juliet's son (Henry) nor daughter (Roxanne) is color blind. Henry and Roxanne have normal
karyotypes. Roxanne has a son who is color blind.

a) What is Juliet's genotype for the color-blindness allele? How would you explain her partial color
blindness?
b)
c) Why aren't Henry and Roxanne color blind?

5. What is the inheritance pattern of the disease presented in the following pedigree? Determine the probability of
“?” individuals to have the disease.
 Biology 2C03: Genetics
Tutorial 5 – X inactivation and imprinting

6. What is the inheritance pattern of the disease presented in the following pedigree? Determine the probability of
“?” individuals to have the disease.