DrVirgo
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31. A 25 year old woman has mild expression of hemophilia A. A genetic diagnosis reveals that she is heterozygous carrier of a mutation in the X-linked factor VIII gene. Which of the following is the most likely explanation for mild expression of disease in this individual?
A. Her father is affected, and her mother is a heterozygous carrier
B. A high proportion of the X chromosome carrying the mutation are active
C. A nonsense mutation is causing formation of a trunchated protein
D. One of her X chromosomes carries the SRY gene
E. X inactivation does not affect the entire chromosome
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| robin082006
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bbbbbbbbbbbbbb
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| star1
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B
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| Cedrick
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bebe
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| DrVirgo
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B is right.. anyone want to give an explanation?
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| Cedrick
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not at this time and moment
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| study_ing
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according to the Lyon hypothesis, one of the X chromosomes is inactivated. this is a random process.
in males, X-linked disorders are expressed since this is the only X they have.
in females, 2 xs are found. hence the normal one is able to compensate as it will be expressed in some cells by a random process.
however random processes r not absolute.
this unfortunate lady has undergone greater inactivation of the normal X chromosome than the mutant one. hence she expreses the disease.
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| DrVirgo
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Good answer study... 
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| study_ing
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lets hope the ecfmg think so too
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| DrVirgo
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| ManuNastai
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| AutumW
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Ah, you know what review program has a really good explanation of this is Score95.com. I just purchased a membership and I was checking in their notes about what guys are talking about. I wanted to post what their explanation, but I guess its against the rules of the forum.
Cheers!!!
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| rubina
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B IS RIGHT
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