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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.
Nevertheless, the concept is still widely used in evolutionary genetics, e.g. to explain the persistence of deleterious alleles as in the case of spinal muscular atrophy, [5] [4] or, in theoretical models, mutation-selection balance can appear in a variety of ways and has even been applied to beneficial mutations (i.e. balance between selective ...
M phase See mitosis. macromolecule Any very large molecule composed of dozens, hundreds, or thousands of covalently bonded atoms, especially one with biological significance. . Many important biomolecules, such as nucleic acids and proteins, are polymers consisting of a repeated series of smaller monomers; others such as lipids and carbohydrates may not be polymeric but are nevertheless large ...
Fixed alleles were first defined by Motoo Kimura in 1962. [5] Kimura discussed how fixed alleles could arise within populations and was the first to generalize the topic. He credits the works of Haldane in 1927 [ 6 ] and Fisher in 1922 [ 7 ] as being important in providing foundational information that allowed him to come to his conclusion.
Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygous. [3]
In other words, if the allele frequency of A equals 70%, the remaining 30% of the alleles must be a, because together they equal 100%. [5] For a gene that exists in two alleles, the Hardy–Weinberg equation states that (p 2) + (2pq) + (q 2) = 1. If we apply this equation to our flower color gene, then
Disruptive selection favors both extreme phenotypes while the moderate phenotype will be selected against. The frequency of both extreme alleles will increase while the frequency of the moderate allele will decrease, differing from the trend in directional selection in which only one extreme allele is favored.
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.