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Anatomy · Genetics: carrier risk calculation
Sample itemA healthy woman has a brother with an autosomal recessive disorder, and her parents are healthy. Her unrelated partner has no family history, and the carrier frequency in his population is 1 in 50. What is the probability that their first child is affected?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. 1 in 300
Her parents are obligate carriers, so as an unaffected sibling she has a 2 in 3 chance of being a carrier. The partner has a 1 in 50 chance. If both are carriers the child has a 1 in 4 chance of being affected. The risk is 2/3 x 1/50 x 1/4 = 2/600 = 1 in 300.
Option by option
A. 1 in 300 (correct)
Correct. 2/3 x 1/50 x 1/4 = 1 in 300.
B. 1 in 150
1 in 150 results from using 1/2 instead of 1/4 for the chance of an affected child.
C. 1 in 200
1 in 200 results from assuming she is a certain carrier (1 x 1/50 x 1/4).
D. 1 in 600
1 in 600 results from using 1/3 instead of 2/3 for her carrier chance.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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