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Biochemistry · Inheritance patterns: X-linked dominant
Sample itemIn a family with hypophosphataemic rickets resistant to vitamin D, an affected man has five children: all three daughters are affected and both sons are unaffected. An affected woman in the next generation has both affected and unaffected children of both sexes. There is no male-to-male transmission. Which inheritance pattern fits best?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. X-linked dominant
An affected father passes his single X chromosome to all daughters and his Y to all sons, so every daughter is affected and no son is. An affected heterozygous mother transmits the allele to half of her children irrespective of sex. Absence of male-to-male transmission separates X-linked dominant from autosomal dominant inheritance, and the PHEX gene is mutated in this form of rickets.
Option by option
A. X-linked recessive
X-linked recessive disease mainly affects males, and carrier daughters would be unaffected.
B. Mitochondrial
Mitochondrial inheritance cannot pass from an affected father to his children.
C. Autosomal dominant
Autosomal dominant inheritance would allow father-to-son transmission.
D. X-linked dominant (correct)
All daughters and no sons of an affected father point to X-linked dominant inheritance.
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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