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Science. 1998 May 15;280(5366):1077-82.

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.

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Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, MA 02142, USA.


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.

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