1塩基多型解析とその応用

概要

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Single nucleotide polymorphisms (SNPs) are places along the chromosomes where the genetic code tends to vary from one person to another by just a single base. They are estimated to occur about once every 1,000 bases along the 3-billion-base human genome. SNPs are an increasingly important tool for genetic and biological research. SNPs analysis is becoming increasingly important for studies of drug resistance, evolution, and molecular epidemiology in mycobacterium tuberculosis, human immunodeficiency virus, and other organisms. Although current genomic databases contain information on several million SNPs and the numbers are growing at a very fast rate, the true value of a SNP in this context is a function of the quality of the annotations that characterizes it. The most common application of SNPs is in association studies that look for a statistically significant association between SNP alleles and phenotypes, in order to pinpoint candidate causative genes. Data derived from analysis of SNPs are being applied in many diverse fields, from medical studies of disease mechanisms and individual drug response, to population genetics for tracking migration and mixing of ancestral groups and also in forensic science for the identification of human remains and identification of individuals from bodily samples.
東京女子医科大学の論文