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Biology · Introductory biology · Worked example

Find allele frequencies from genotype counts

A DNA test of 200 fish at one gene finds 90 AA, 80 Aa and 30 aa. Find the allele frequencies p and q, and the genotype counts Hardy–Weinberg equilibrium predicts for a sample of this size.

Count the A copies

The 200 fish carry 400 copies of the gene. Each AA fish carries two A copies and each Aa fish carries one.

2⁢(90)+80=260

Find p

p is the share of all 400 copies that are A.

260400=0.65

Find q

Every copy is A or a, so q = 1 − p. As a check, the 2(30) + 80 = 140 a copies are 0.35 of 400.

1−0.65=0.35

Predict the genotype frequencies

Under random mating, AA has frequency p², Aa has 2pq and aa has q². The three add to 1.

0.652=0.42252⁢(0.65)⁢(0.35)=0.4550.352=0.1225

Turn frequencies into expected counts

Multiply each frequency by the 200 fish sampled. Expected counts need not be whole numbers: they are averages over many samples.

200⁢(0.4225)=84.5200⁢(0.455)=91200⁢(0.1225)=24.5

Compare with what was counted

The sample has a few more homozygotes and 11 fewer heterozygotes than equilibrium predicts. Whether a gap this size is more than chance is a question for a chi-square test.

Observed and expected genotype counts
GenotypeObservedExpected
AA9084.5
Aa8091
aa3024.5

Result

p = 0.65 and q = 0.35. Hardy–Weinberg equilibrium predicts 84.5 AA, 91 Aa and 24.5 aa among 200 fish, against the 90, 80 and 30 counted.

Your turn

A sample of 500 plants has 320 AA, 160 Aa and 20 aa. Find p and q, and compare the counts with Hardy–Weinberg expectations.

Show the answer and explanation

p = 0.8 and q = 0.2; the expected counts are 320, 160 and 20, exactly what was counted.

The 1,000 gene copies include 2(320) + 160 = 800 A copies. Then p² = 0.64, 2pq = 0.32 and q² = 0.04, which give 320, 160 and 20 of 500.

2⁢(320)+1601000=0.8

Keep exploring

The Hardy–Weinberg tool opens with these counts and shows p, q and the expected counts. Its Send to… route carries the observed and expected counts to a chi-square test in Statistics.

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