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Kaplan Qbank USMLE



Author9 Posts
  #1

A woman comes to your office for genetic counseling because her niece has cystic fibrosis (autosomal recessive). She is concerned that she might be a CF carrier. What is the probability that this woman is a heterozygous carrier for a cystic fibrosis mutation?

  #2

2pq - 50%. Hey what if she's adopted! sticking out tonguegrin

  #3

Answer: 1/2nodnod

  #4

can u explain?

  #5

yes po plz post the explanation

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Forum Elite, But Step 2 Newbie....

  #6

there were no explns given, I think only answers were there.
so me trying to get this right,

niece having cystic fibrosis,means she has got (aa);
for practical reasons niece's other parent is normal(AA) since they dont mention.

now that means this woman's sibling has cystic fibrosis and they together have parents who are both carriers.

Now,
(Aa)(Aa)=(AA),(Aa),(Aa),(aa)

now for her to be carrier is 50%

One doubt though,whether cystic fibrosis pts have children?rolling eyes


  #7

no the sib doesnt have cystic fibrosis, its the niece who has it.


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Forum Elite, But Step 2 Newbie....

  #8

Seems i figured it out. this is how it goes.

niece is aa.

we cannot assume her parent, i.e this woman's sib, is a patient (coz its not mentioned, she cant have children, and besides, they should have come for counselling already, why wait for the niece to be born) grin

so the sib is a carrier Aa.

now if the woman's sib is a carrier, that means her parents are either AA and Aa or Aa and Aa. in either case the risk of the woman being Aa is 50%.


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  #9

thanks for the correction.







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