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Concept
Genotype frequency
Summary
Genetic variation in populations can be analyzed and quantified by the frequency of alleles. Two fundamental calculations are central to population genetics: allele frequencies and genotype frequencies. Genotype frequency in a population is the number of individuals with a given genotype divided by the total number of individuals in the population.
In population genetics, the genotype frequency is the frequency or proportion (i.e., 0 < f < 1) of genotypes in a population.
Although allele and genotype frequencies are related, it is important to clearly distinguish them.
Genotype frequency may also be used in the future (for "genomic profiling") to predict someone's having a disease or even a birth defect. It can also be used to determine ethnic diversity.
Genotype frequencies may be represented by a De Finetti diagram.
As an example, consider a population of 100 four-o-'clock plants (Mirabilis jalapa) with the following genotypes:
49 red-flowered plants with the genotype AA
42 pink-flowered plants with genotype Aa
9 white-flowered plants with genotype aa
When calculating an allele frequency for a diploid species, remember that homozygous individuals have two copies of an allele, whereas heterozygotes have only one. In our example, each of the 42 pink-flowered heterozygotes has one copy of the a allele, and each of the 9 white-flowered homozygotes has two copies. Therefore, the allele frequency for a (the white color allele) equals
This result tells us that the allele frequency of a is 0.3. In other words, 30% of the alleles for this gene in the population are the a allele.
Compare genotype frequency:
let's now calculate the genotype frequency of aa homozygotes (white-flowered plants).
Allele and genotype frequencies always sum to one (100%).
The Hardy–Weinberg law describes the relationship between allele and genotype frequencies when a population is not evolving. Let's examine the Hardy–Weinberg equation using the population of four-o'clock plants that we considered above:
if the allele A frequency is denoted by the symbol p and the allele a frequency denoted by q, then p+q=1.
Official source
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