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Kaplan Qbank USMLE



Author8 Posts
  #1

NBME Form 4 concept:

Do males have a 0% chance of being a CARRIER of an X-linked recessive disease (Duchenne's)?! A man has two brothers who died of Duchenne's so what is the probability that he would be a carrier (he wants to know because he wants to have a baby)?!


  #2

Yah, i don't think he's a carrier...unless this is a case of incomplete penetrance. not sure tho

  #3

I think by "carrier" in the case of an X-R disease in males, they just refer to his chances of being affected.
Or in other words, his chances of Carrying the affected X!
just my guess..


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  #4

in this guy i think we assume he is asymptomatic despite being old enough...hence the chances of him being a Carrier of the trait are 0. he's a male so he's hemizygous.
what thinks the gang??

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  #5

correct. for an x linked recessive gene, a man cannot be a carrier unless the disease does not have complete penetrance. because if the only x he has is diseased, he will hae the disease.

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  #6

male cannot be a carrier, agree with tolito

  #7

Don't want to throw a spanner in the works... all sounds good... but what about penetrance? Can't a male have the X gene but the penetrance be low so it's not expressed?

  #8

tolito wrote:
correct. for an x linked recessive gene, a man cannot be a carrier unless the disease does not have complete penetrance. because if the only x he has is diseased, he will hae the disease.


agree with tolito!



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