LARGE-SCALE IDENTIFICATION, MAPPING, AND GENOTYPING OF SINGLE-NUCLEOTIDE POLYMORPHISMS IN THE HUMAN GENOME

Single-nucleotide polymorphisms (SNPs) are the most frequent type of v ariation in the human genome, and they provide powerful tools for a va riety of medical genetic studies. In a large-scale survey for SNPs, 2. 3 megabases of human genomic DNA was examined by a combination of gel- based sequencing and high-density variation-detection DNA chips. A tot al of 3241 candidate SNPs were identified. A genetic map was construct ed showing the location of 2227 of these SNPs. Prototype genotyping ch ips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleoti de level and demonstrate the feasibility of large-scale identification of human SNPs.