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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.
Single-nucleotide polymorphisms may fall within coding sequences of genes, non-coding regions of genes, or in the intergenic regions (regions between genes). SNPs within a coding sequence do not necessarily change the amino acid sequence of the protein that is produced, due to degeneracy of the genetic code. [15]
A multilocus genotype is the combination of alleles found at two or more loci in a single individual. For example, in a diploid species, if there are two SNP loci and the first locus has alleles A and G, while the second locus has alleles T and C, the multilocus genotype can be represented as {A/G,T/C}. If the genome is not haploid then the ...
In population genetics, fixation is the change in a gene pool from a situation where there exists at least two variants of a particular gene in a given population to a situation where only one of the alleles remains. That is, the allele becomes fixed. [1]
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 ...
SNPs are one of the most common types of genetic variation. An SNP is a single base pair mutation at a specific locus, usually consisting of two alleles (where the rare allele frequency is > 1%). SNPs are found to be involved in the etiology of many human diseases and are becoming of particular interest in pharmacogenetics.
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]
The original model assumes that if an allele has a mutation that causes it to change in state, mutations that occur in repetitive regions of the genome will increase or decrease by a single repeat unit at a fixed rate (i.e. by the addition or subtraction of one repeat unit per generation) and these changes in allele states are expressed by an integer (. . .