Large-Scale Identification, Mapping, and Genotyping of Sinle-Nucleotide Polymorphisms in the Human Genome

摘要

Single-nucleiotide polymorphisms (SNPs) are the most frequent type of variation in the humn genome, and they provide powerful tools for a variety 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 total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs.