A 25-Year-Old Nulligravid Woman Comes with Her Husband to the Clinic

A 25-year-old nulligravid woman comes with her husband to the clinic for preconception genetic counseling.  She has oculocutaneous albinism due to a homozygous OCA2 gene mutation within the region of chromosome 15q12-q13.  Examination shows pale hypopigmented skin with blonde hair.  Eye examination shows faint brown irises.  Her husband is 26 years old and has oculocutaneous albinism due to a biallelic TYR gene mutation at position 11q14.3.  Examination of the husband shows complete absence of pigmentation in the skin, hair, and irises.  The couple asks about their chance of having a child with oculocutaneous albinism and are told that the chance is 0%.  Which of the following is the best explanation for this?

A) Allelic heterogeneity
B) Heteroplasmy
C) Incomplete penetrance
D) Linkage disequilibrium
E) Locus heterogeneity
F) Pleiotropy

Correct Answer:

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