Unit content
Allele and genotype frequencies in diploid populations
Population genetics describes genetic variation using frequencies rather than only individual genotypes.
For a diploid locus with alleles $A$ and $a$, let the genotype counts be
$$N_{AA},\quad N_{Aa},\quad N_{aa},$$
with total individuals
$$N=N_{AA}+N_{Aa}+N_{aa}.$$
The genotype frequencies are simply each count divided by $N$.
The population contains $2N$ allele copies at this autosomal locus. The frequency of allele $A$ is
$$p=\frac{2N_{AA}+N_{Aa}}{2N},$$
and the frequency of allele $a$ is
$$q=\frac{2N_{aa}+N_{Aa}}{2N}.$$
Because these are the only two alleles,
$$p+q=1.$$
Worked example
Suppose 100 individuals have genotypes
- 36 $AA$,
- 48 $Aa$,
- 16 $aa$.
Then
$$p=\frac{2(36)+48}{200}=\frac{120}{200}=0.60,$$
and
$$q=0.40.$$
The genotype frequencies are $0.36$, $0.48$ and $0.16$, while the allele frequencies are $0.60$ and $0.40$. These are different kinds of quantities.
Allele frequencies track the composition of the gene pool, the collection of allele copies present in the population. Evolution at a locus can therefore be detected by comparing allele frequencies across generations.