Calculating Gene Frequencies Help

By — McGraw-Hill Professional
Updated on Aug 23, 2011

Autosomal Loci with Two Alleles

  1. Dominant and Recessive Autosomal Alleles. A dominant phenotype may have either of two genotypes, AA or Aa, but we have no way (other than by laboriously testcrossing each dominant phenotype) of distinguishing how many are homozygous or heterozygous in our sample. The only phenotype whose genotype is known for certain is the recessive (aa). If the population is in equilibrium, then we can obtain an estimate of q (the frequency of the recessive allele) from q2 (the frequency of the recessive genotype or phenotype). Then the frequency of the dominant allele is
      p = 1 – q or p = 1 – √q2
  2. Codominant Autosomal Alleles. When codominant alleles are present in a two-allele system, each genotype has a distinctive phenotype. The numbers of each allele in both homozygous and heterozygous conditions may be counted in a sample of individuals from the population and expressed as a percentage of the total number of alleles in the sample. If the sample is representative of the entire population (containing proportionately the same numbers of genotypes as found in the entire population) then we can obtain an estimate of the allelic frequencies in the gene pool. Given a sample of N individuals of which D are homozygous for one allele (A1A1), H are heterozygous (A1A2), and R are homozygous for the other allele (A2A2), then N = D + H + R. Since each of the N individuals is diploid at this locus, there are 2N alleles represented in the sample. Each A1A1 genotype has two A1 alleles. Heterozygotes have only one A1 allele. Letting p represent the frequency of the A1 allele and q the frequency of the A2 allele, we have

    This allows the translation of phenotype frequencies into gene (allele) frequencies.

  3. Sex-Influenced Traits. The expression of dominance and recessive relationships may be markedly changed in some genes when exposed to different environmental conditions, most notable of which are the sex hormones. In sex-influenced traits, the heterozygous genotype usually will produce different phenotypes in the two sexes, making the dominance and recessive relationships of the alleles appear to reverse themselves. We shall consider only those sex-influenced traits whose controlling genes are on autosomes. Determination of allelic frequencies must be indirectly made in one sex by taking the square root of the frequency of the recessive phenotype (q = √q2). A similar approach in the opposite sex should give an estimate of the alternate allele, p. Corroboration of sex influence is obtained if these estimates of p and q made in different sexes add close to one.

Autosomal Loci with Multiple Alleles

If we consider three alleles, A, a', and a, with the dominance hierarchy A > a' > a, occurring in the gene pool with respective frequencies p, q, and r, then random mating will generate progeny with the following frequencies:

Autosomal Loci with Multiple Alleles

For ease in calculation of a given allelic frequency, it may be possible to group the phenotypes of the population into just two types.

EXAMPLE 9.3   In a multiple allelic system where A > a' > a, we could calculate the frequency of the top dominant allele A by considering the dominant phenotype (A) in contrast to all other phenotypes produced by alleles at this locus. The latter group may be considered to be produced by an allele ax, which is recessive to A.


      p = frequency of allele A, q = frequency of allele ax
      q2 = frequency of phenotypes other than A
      q = √q2
      p = 1 – q = frequency of gene A

Many multiple allelic series involve codominant relationships such as (A1 = A2) > a, with respective frequencies p, q, and r. More genotypes can be phenotypically recognized in codominant systems than in systems without codominance.

Autosomal Loci with Multiple Alleles

The use of this formula in calculating multiple allelic frequencies is presented in Solved Problem 9.7. The multiple allelic problems in this chapter will be mainly concerned with three alleles.

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