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Retired NBME 16 Answers

nbme16/Block 1/Question#14 (reveal difficulty score)
Lesch-Nyhan syndrome, an X-linked recessive ...
1/50,000 ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
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 +3  upvote downvote
submitted by โˆ—bingcentipede(359)
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FA 2019, p. 57: "The frequency of an X-linked recessive disease in males = q and in females = q^2" Found this on USMLEforum: "X-linked recessive: Prevalence = allele frequency q square = q Carrier state for females = 2q"

Additionally, from Reddit: https://www.reddit.com/r/step1/comments/d492nm/nbme_16_leschnyhan_hardy_weinberg/

If q=1/100,000, p~1. So 2pq~2q=1/50,000. Hard to do with the NBME calculator unfortunately.

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 +2  upvote downvote
submitted by paloma(10)
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q= 1/100.000 (frequency in males) p+q=1 2pq=? (frequency of heterozygous)

2pq=0,00002=1/50.000

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tatianalimo  would you write in English? +7



 +1  upvote downvote
submitted by โˆ—topgunber(68)
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Genetics- The following is a helpful way to do all the allele frequency questions / carrier frequency questions.

  • AD : I = 2pq. The cases are in nearly all carriers (2pq). Most homozygotes die. (q^2)
  • AR : I = q^2 (the cases are ONLY shown in homozygotes). The carriers are 2pq

  • X linked : Boys : I = q . Boys carrying ONE allele are affected individuals. GIRL CARRIERS (heterozygous females) : I = 2PQ. This gets us to the answer. On the other hand AFFECTED GIRLS (incidence in girls) would be I= q^2 - extremely small (choice e)

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topgunber  By the way allele frequencies if asked are finding just q. Most of the time P is close to 1. In this case P would be 1-1/100,000 = 99,999/100000 which is why you can usually exclude it from equations +



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