Genotyping provides a measurement of the genetic variation between members of a species. Single nucleotide polymorphisms (SNP) are the most common type of genetic variation. A 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 often found to be the etiology of many human diseases and are becoming of particular interest in pharmacogenetics. Because SNPs are ...
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Genotyping provides a measurement of the genetic variation between members of a species. Single nucleotide polymorphisms (SNP) are the most common type of genetic variation. A 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 often found to be the etiology of many human diseases and are becoming of particular interest in pharmacogenetics. Because SNPs are evolutionarily conserved, they have been proposed as markers for use in quantitative trait loci (QTL) analysis and in association studies in place of microsatellites. The use of SNPs is being extended in the HapMap project, which is attempting to provide the minimal set of SNPs needed to genotype the human genome. SNPs can also provide a genetic fingerprint for use in identity testing (Rapley & Harbron 2004).
The increase in interest in SNPs has been reflected by the furious development of a diverse range of SNP genotyping methods. This...
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