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Introductory 8 min read Open the module

The De Finetti diagram

Genotype frequencies at one locus plot as a point in a triangle, and Hardy-Weinberg populations lie on a parabola.

Three frequencies, one point

At one locus with alleles A and a, a population has three genotype frequencies. Write D = P(AA), H = P(Aa) and R = P(aa). They sum to 1, so two of them fix the third: R = 1 − D − H. The module takes D and H and works out the rest.

The allele frequency follows by counting gene copies. Each AA carries two A copies and each Aa carries one, so p = D + H/2, and q = 1 − p. The module plots one point per population. Its horizontal position is p. Its height is H.

The points live inside a triangle. The corners are the populations that are all aa (p = 0, H = 0), all AA (p = 1, H = 0) and all Aa (p = 0.5, H = 1). A population cannot sit outside it, because H can never exceed 2 min(p, q). You can read the genotypes back from a point: D = p − H/2 and R = q − H/2.

This page is not a simulation. There is no population size, no time and no randomness. The same D and H always give the same point.

On the parabola and below it

Figure 1. Two populations. The first has D = 0.25, H = 0.5, R = 0.25, so p = 0.5 and 2pq = 0.5. It sits on the parabola. The second has D = 0.5, H = 0.2, R = 0.3, so p = 0.6 and 2pq = 0.48. It sits 0.28 below the parabola, and its arrow points straight up.

The parabola

Let gametes meet at random. An egg carries A with probability p and so does a sperm. The zygote is AA with probability p², aa with probability q², and Aa with probability 2pq. These are the Hardy-Weinberg proportions. One generation of random mating produces them, whatever the starting genotype frequencies were, and p does not change.

In the diagram those populations satisfy H = 2p(1 − p). The curve is a parabola with its top at (0.5, 0.5). Every population at Hardy-Weinberg equilibrium is on it. A point above it has more heterozygotes than random mating gives. A point below it has fewer. The signed gap is ΔH = H − 2pq, and the hover panel shows it.

The arrow on each point shows one generation of random mating. Because p is unchanged, the arrow is vertical. It ends on the parabola at (p, 2pq). For the second population in the figure, H rises from 0.2 to 0.48.

How far a point can be from it

The largest excess is the top corner, D = 0 and H = 1. Then p = 0.5, 2pq = 0.5 and ΔH = +0.5. Every individual is a heterozygote. The largest deficit is a population of homozygotes only, such as D = 0.5, H = 0 and R = 0.5. That is also p = 0.5, and ΔH = −0.5.

The corners where p = 0 or p = 1 are on the parabola. With one allele fixed there is nothing to be heterozygous for, and 2pq is 0.

The diagram shows frequencies, not counts. It says nothing about whether a gap is larger than sampling error would give. The Chi-Square HWE Test module answers that.

A lasting departure needs a cause, because random mating removes one in a single generation. Inbreeding and assortative mating give a deficit of heterozygotes. Selection acting on genotypes can move a population either way. Pooling subpopulations that have different p also gives a deficit, which is the Wahlund effect.

Inbreeding drops points straight down

Figure 2. Three populations at p = 0.5 with inbreeding coefficient F = 0, 0.5 and 1. They have H = 2pq(1 − F) = 0.5, 0.25 and 0. The heights fall, and p stays at 0.5. The last two are 0.25 and 0.5 below the parabola.

Exercise

Plot a deficit and an excess

Type P(AA) 0.5 and P(Aa) 0.2 and press Plot. Then P(AA) 0 and P(Aa) 1 and press Plot. Hover each point.

What to expect. The first point has p = 0.6 and ΔH = −0.28, and its arrow points up to 0.48. The second has p = 0.5 and ΔH = +0.5, and its arrow points down to 0.5.

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Exercise

Find an invalid population

Type P(AA) 0.8 and P(Aa) 0.4, then press Plot.

What to expect. The page reports that P(AA) + P(Aa) cannot exceed 1 and plots nothing. Press Clear to restore the defaults, 0.25 and 0.5.

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Summary

  • Genotype frequencies D, H and R sum to 1. The diagram plots p = D + H/2 across and H up.
  • Random mating gives p², 2pq and q² in one generation, and p does not change.
  • Those populations lie on the parabola H = 2p(1 − p), or H² = 4DR.
  • A point above the parabola has a heterozygote excess. A point below has a deficit. The largest gap is 0.5.
  • Inbreeding with coefficient F lowers H to 2pq(1 − F) and leaves p alone.