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Allele. An allele[1], or allelomorph, is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule. [2] Alleles can differ at a single position through single nucleotide polymorphisms (SNP), [3] but they can also have insertions and deletions of up to several thousand base pairs. [4]
Population structure (genetics) 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.
When multiple different alleles for a gene are present in a species's population it is called polymorphic. Most different alleles are functionally equivalent, however some alleles can give rise to different phenotypic traits. A gene's most common allele is called the wild type, and rare alleles are called mutants.
Coalescent theory. Coalescent theory is a model of how alleles sampled from a population may have originated from a common ancestor. In the simplest case, coalescent theory assumes no recombination, no natural selection, and no gene flow or population structure, meaning that each variant is equally likely to have been passed from one generation ...
A locus in this population has two alleles, A and a, that occur with initial frequencies f 0 (A) = p and f 0 (a) = q, respectively. [ note 1 ] The allele frequencies at each generation are obtained by pooling together the alleles from each genotype of the same generation according to the expected contribution from the homozygote and ...
Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism. No two humans are genetically identical. Even monozygotic twins (who develop from one zygote) have infrequent genetic differences due to mutations ...
The two possible arrangements, cis and trans, of alleles in a double heterozygote are referred to as gametic phases, and phasing is the process of determining which of the two is present in a given individual. When two genes are located on the same chromosome, the chance of a crossover producing recombination between the genes is related to the ...
Allele frequency. 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.