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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.
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]
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.
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]
Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. [2] The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of ...
A gene can acquire mutations in its sequence, leading to different variants, known as alleles, in the population. These alleles encode slightly different versions of a gene, which may cause different phenotypical traits. [4] Genes evolve due to natural selection or survival of the fittest and genetic drift of the alleles.
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A haplotype (haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. [1] [2] Many organisms contain genetic material which is inherited from two parents. Normally these organisms have their DNA organized in two sets of pairwise similar chromosomes. The offspring gets one chromosome in each pair ...