Population genetics · USMLE Step 1

In a population at Hardy-Weinberg equilibrium, the frequency of a recessive disease is 1 in 10,000 individuals. What is the approximate carrier frequency?

  1. 1/100
  2. 1/50
  3. 1/25
  4. 1/10
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Correct answer: 1/50

If q-squared = 1/10,000, then q = 1/100 and p is approximately 1. The carrier (heterozygote) frequency is 2pq = 2(1)(1/100), which is approximately 1/50.

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