You are a doctor who specializes in genetic diseases. A married couple comes to see you for genetic counseling. The woman has PKU, the symptoms of which she manages by diet
The man and woman are first cousins and would like to know the probability that any of their children will have the disease. What would you tell them?
Since the woman has the disease, she must be homozygous recessive for the defective autosomal gene. If her husband is not a carrier, all their children will be heterozygous carriers of the disease. However, since the man and woman are closely related, there is a high probability that the man is a carrier of the PKU gene. If he is a carrier, there is a 50% chance that any of their children will have the disease. You would perform a detailed pedigree analysis for the couple to better determine the probability that the husband carries the recessive allele.
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