- Consider an autosomal locus with two alleles A1 and A2 at frequencies of 0.6 and 0.4 respectively. Each generation, A1 mutates to A2 at a rate of µ = 1 x 10-5 while A2 mutates to A1 at a rate of u = 2 x 10-5. Assume that the population is infinitely large and no other evolutionary force is acting. The equilibrium frequency of allele A1 is
(1) 1.0. (2) 0.5.
(3) 0.67 (4) 0.33The Scenario
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Two alleles: A1 and A2
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Initial frequencies:
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A1: 0.6
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A2: 0.4
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Mutation rates:
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A1 → A2: μ = 1×10−5
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A2 → A1: v = 2×10−5
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Population: Infinitely large, no selection, drift, or migration
Step 1: The Formula for Equilibrium Frequency
The equilibrium frequency of allele A1 (p∗) under bidirectional mutation is:
p∗=vμ+v
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v = mutation rate from A2 to A1
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μ = mutation rate from A1 to A2
Step 2: Substitute the Given Values
p∗=2×10−51×10−5+2×10−5p∗=2×10−53×10−5=23≈0.67
Step 3: Match With the Provided Options
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(1) 1.0
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(2) 0.5
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(3) 0.67
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(4) 0.33
The correct answer is (3) 0.67.
Why This Matters
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Predicts genetic stability: Shows how mutation rates alone can determine stable allele frequencies in the absence of other forces.
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Useful in conservation and evolutionary biology: Helps understand how rare alleles can persist or disappear over time.
Conclusion
When two alleles mutate back and forth at different rates, the equilibrium frequency is determined by the ratio of the reverse mutation rate to the sum of both mutation rates. For the given rates, the equilibrium frequency of allele A1 is 0.67.
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