Some women who are heterozygous for mutations associated with X-linked recessive diseases exhibit symptoms. Why?
Select one:
a. Translocations result in the gene being autosomal in these women
b. These disease genes are located in the pseudoautosomal region of the X chromosome
c. The disease-causing alleles in these women contain loss-of-function mutations
d. The X chromosome bearing the wild type allele is inactivated in many of these women’s cells
Answer: d The X chromosome bearing the wild type allele is inactivated in many women's cell.
Explanation: we all know to compensate for the double dose of the X chromosome in females a phenomenon known as dosage compensation is occurred in which one of the x chromosomes is inactivated. And this may cause the occurrence of X-linked recessive disease in heterozygotic females as in case of Fabry disease
Some women who are heterozygous for mutations associated with X-linked recessive diseases exhibit symptoms. Why? Select...
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genetics
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