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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.
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.
A genetic lineage includes all descendants of a given genetic sequence, typically following a new mutation.It is not the same as an allele because it excludes cases where different mutations give rise to the same allele, and includes descendants that differ from the ancestor by one or more mutations.
Assume the first locus has alleles A or T and the second locus G or C. Both loci, then, have three possible genotypes: (AA, AT, and TT) and (GG, GC, and CC), respectively. For a given individual, there are nine possible configurations (haplotypes) at these two loci (shown in the Punnett square below). For individuals who are homozygous at one ...
The words homozygous, heterozygous, and hemizygous are used to describe the genotype of a diploid organism at a single locus on the DNA. Homozygous describes a genotype consisting of two identical alleles at a given locus, heterozygous describes a genotype consisting of two different alleles at a locus, hemizygous describes a genotype consisting of only a single copy of a particular gene in an ...
Gene flow is the transfer of alleles from one population to another population through immigration of individuals. In population genetics, gene flow (also known as migration and allele flow) is the transfer of genetic material from one population to another. If the rate of gene flow is high enough, then two populations will have equivalent ...
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 to the next.
Autosomal dominant-recessive inheritance is made possible by the fact that the individuals of most species (including all higher animals and plants) have two alleles of most hereditary predispositions because the chromosomes in the cell nucleus are usually present in pairs . Carriers can be female or male as the autosomes are homologous ...