Genetic diagnosis

Abstract

Recently, attention has been focused on single nucleotide polymorphisms (SNPs). SNPs are useful not only as markers for human genetic studies because of their high density, but also because they make it easy to perform large-scale genotyping using high-throughput methods. Monitoring SNPs may help gene hunters to trace sequences associated with susceptibility to common diseases. A large number of SNPs are deposited in the public database, dbSNP at the U. S. National Center for Biotechnology Information. We validated 525 candidate SNPs by DNA sequencing of samples from Japanese individuals, and a total of 143 SNPs (27%) were identified. In Japan, the JSNP project is underway and many SNPs have been identified. In the near future, the genotyping of SNPs will identify the susceptible genes of common diseases.