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Kaplan Qbank USMLE



Author12 Posts
  #1

35 yr old man who is phenotypically normal but his 2 son's died of tay sach's disease .What is the risk that this man is heterogyzous carrier of the disease ?

  #2

100%??

  #3

nope

  #4

50%?

  #5

the answer is 2/3 or 66%

  #6

hows tht?

  #7

:arrow: his parents both should be carrier since he produced two children with the disease. :arrow: since he is not affected,this excludes 1/4 (which is the probablity of inheriting two copies of disease allele).

:arrow: his risk of inheriting a copy of disease gene at conception is 1/2 but since he is phenotypically normal means he cannot have inheritied copies from both parents .

:arrow: so he should inherit a copy from father or a copy from mother or shouldnot get any .
:arrow: two of the above possiblities leads to heterozygosity...thus his risk of being a carrier is 2/3

I am really having tough time with these stupid Q's from genetics :cry:

  #8

u r atleast able to solve them,i m not getting even wth explanations ......genetics is driving me crazy :roll:

  #9

i thought i was the only person having tough time with genetics and all those calculations etc....

___________________
if you haven't any charity in your heart, you have the worst kind of heart trouble.

  #10

no boby its the same problem with everyone except few people like meg ,mjl etc

  #11

I think its 100% as mentioned by usmleasr.
Since the 2 kids got the disease their genotype(a,a) would have been contributed by 1 from the father and 1 from the mother.And so the father is 100% a carrier and there is no chance of him being a normal genotype.He cannot be having the disease because he's already 35years.The answer given by asmi is incorrect.

  #12

yes, that's what I would have chosen 100% also.
I don't really understand asmi's explanation. is there something that I'm missing? coz it seems that everybody agreed with it.

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There are 3 types of people: those who make things happen, those who watch things happen, and those who wonder what happened.







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