Population genetics · USMLE Step 1

A rare autosomal recessive disorder affects 1 in 40,000 individuals. What is the approximate allele frequency of the mutant allele?

  1. 1/200
  2. 1/100
  3. 1/400
  4. 1/20
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Correct answer: 1/200

If q² = 1/40,000, q = 1/200. This is the mutant allele frequency in the population. The value reflects the square root of the disease prevalence.

Difficulty: Medium Question 3 of 20

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