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Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. [1] Specifically, it is the fraction of all chromosomes in the population that carry that allele over the total population or sample size.
The allele frequency spectrum can be written as the vector = (,,,,), where is the number of observed sites with derived allele frequency .In this example, the observed allele frequency spectrum is (,,,,), due to four instances of a single observed derived allele at a particular SNP loci, two instances of two derived alleles, and so on.
Once an allele becomes fixed, genetic drift comes to a halt, and the allele frequency cannot change unless a new allele is introduced in the population via mutation or gene flow. Thus even while genetic drift is a random, directionless process, it acts to eliminate genetic variation over time.
The level of gene flow among populations can be estimated by observing the dispersal of individuals and recording their reproductive success. [4] [11] This direct method is only suitable for some types of organisms, more often indirect methods are used that infer gene flow by comparing allele frequencies among population samples.
For example, if a population includes allele A with frequency equal to 20%, and allele a with frequency equal to 80%, there is an 80% chance that after an infinite number of generations a will be fixed at the locus (assuming genetic drift is the only operating evolutionary force).
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.
1. Introduce the reference of a SNP of interest, as an example: rs429358, in a database (dbSNP or other). 2. Find MAF/MinorAlleleCount link. MAF/MinorAlleleCount: C=0.1506/754 (1000 Genomes, where number of genomes sampled = N = 2504); [4] where C is the minor allele for that particular locus; 0.1506 is the frequency of the C allele (MAF), i.e. 15% within the 1000 Genomes database; and 754 is ...
Population structure (also called genetic structure and population stratification) is the presence of a systematic difference in allele frequencies between subpopulations. In a randomly mating (or panmictic) population, allele frequencies are expected to be roughly similar between groups. However, mating tends to be non-random to some degree ...