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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.
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 ...
Haplotype mapping: sets of alleles or DNA sequences can be clustered so that a single SNP can identify many linked SNPs. Linkage disequilibrium (LD), a term used in population genetics, indicates non-random association of alleles at two or more loci, not necessarily on the same chromosome. It refers to the phenomenon that SNP allele or DNA ...
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]
The process by which a single allele for a particular gene with multiple alleles increases in frequency in a given population such that it becomes permanently established as the only allele at that locus within the population's gene pool. How long fixation takes depends on selection pressures and chance fluctuations in allele frequencies.
Alleles at a locus may be dominant or recessive; dominant alleles give rise to their corresponding phenotypes when paired with any other allele for the same trait, whereas recessive alleles give rise to their corresponding phenotype only when paired with another copy of the same allele. If you know the genotypes of the organisms, you can ...
The majority of polymorphisms are silent, meaning they do not alter the function or expression of a gene. [3] Some polymorphisms are visible. For example, in dogs the E locus can have any of five different alleles, known as E, E m, E g, E h, and e. [4] Varying combinations of these alleles contribute to the pigmentation and patterns seen in dog ...
Most of these variants do not have an effect on the enzyme catalysis function. A few known alleles have an indirect effect on protein function by causing misfolding and disrupt the proper assembly of the enzyme complex. Alkaptunoria is considered to be a classic example of allelic heterogeneity showing a single variant in the human phenotype. [5]