Instructions

A hypothetical genetic disease is caused by a shortage of enzyme A. Enzyme A is involved in the formation of skin. Affected individuals have very stretchy, fragile skin that bruises easily. Mac McCool and Mindy Kool, who are phenotypically normal, are planning to start a family. They visit a genetic counselor and provide the following information: Mac’s parents have normal skin, and so do his three older sisters. Mac’s father has an older sister who has the disease. Mac’s grandparents on his father’s side have normal skin. Mindy’s parents have normal skin, but she has a younger brother who has the syndrome. Mindy’s father has two younger sisters who are non-identical twins and have normal skin. Mindy’s grandparents on her father’s side have normal skin.

1.1 a. Draw a pedigree using conventional symbols and numbering to show three generations of the McCools and the Kools. (3)

b. Using the symbols A/a, assign genotypes as far as possible to Mac’s father and Mac’s father’s sister. (2)

c. What is the probability that Mac and Mindy’s first child will have the syndrome? Assume Mac’s mother is homozygous for normal skin. (Please show all your calculations). (2)

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