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Anatomy · Genetics: X-linked recessive pedigree
Sample itemA man with haemophilia A marries a woman with no family history and no carrier status. What is the genetic outcome for their children?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. All daughters are carriers and all sons are unaffected
Haemophilia A is X-linked recessive due to mutations in F8. A father gives his X chromosome to all his daughters, who become obligate carriers, and his Y chromosome to all his sons, who are unaffected. There is therefore no male-to-male transmission, a hallmark of X-linked inheritance.
Option by option
A. All daughters are carriers and all sons are unaffected (correct)
Correct. Daughters receive the father's mutant X and sons receive his Y.
B. All sons are affected and all daughters are unaffected
Sons receive the father's Y, not his X, so they cannot inherit an X-linked allele from him.
C. All daughters are affected and all sons are carriers
Daughters would be affected only if they also received a mutant X from the mother, who is not a carrier.
D. Half the sons are affected and half the daughters are carriers
This pattern applies when the mother is a carrier and the father is unaffected.
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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