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

TLDR

Single‑nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome and serve as powerful tools for medical genetic studies. The study surveyed 2.3 Mb of human DNA using gel‑based sequencing and high‑density variation‑detection chips, and developed prototype genotyping chips capable of simultaneously genotyping 500 SNPs. The survey identified 3,241 candidate SNPs, mapped 2,227 of them, and demonstrated that large‑scale SNP identification and genotyping is feasible, providing a nucleotide‑level characterization of human diversity.

Abstract

Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human 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. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.