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A single-nucleotide polymorphism (
SNP, pronounced snip; plural snips) is a
DNA sequence variation occurring when a single nucleotide —
A, T, C or G — in the genome (or other shared sequence) differs between members of a biological species or paired chromosomes in a human. For example, two sequenced
DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a
difference in a single nucleotide. In this case we say that there are two alleles.
Almost all common SNPs have only two alleles. The genomic distribution of SNPs is not homogenous; SNPs usually occur in non-coding regions more frequently than in coding regions or, in general, where natural selection is acting and fixating the allele of the SNP that constitutes the most favorable genetic
adaptation.[1] Other factors, like genetic recombination and mutation rate, can also determine SNP density.[2]
SNP density can be predicted by the presence of microsatellites: AT microsatellites in particular are potent predictors of SNP density, with long (AT)(n) repeat tracts tending to be found in regions of significantly reduced SNP density and low
GC content.[3]
Within a population, SNPs can be assigned a minor allele frequency — the lowest allele frequency at a locus that is observed in a particular population. This is simply the lesser of the two allele frequencies for single-nucleotide polymorphisms. There are variations between human populations, so a
SNP allele that is common in one geographical or ethnic group may be much rarer in another.
These genetic variations between individuals (particularly in non-coding parts of the genome) are exploited in
DNA fingerprinting, which is used in forensic science . Also, these genetic variations underlie differences in our susceptibility to disease. The severity of illness and the way our body responds to treatments are also manifestations of genetic variations. For example, a single base mutation in the
APOE (apolipoprotein E) gene is associated with a higher risk for
Alzheimer disease.[4]
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- published: 04 Nov 2013
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