Sachidanandam R, Weissman D, Schmidt S C, Kakol J M, Stein L D, Marth G, Sherry S, Mullikin J C, Mortimore B J, Willey D L, Hunt S E, Cole C G, Coggill P C, Rice C M, Ning Z, Rogers J, Bentley D R, Kwok P Y, Mardis E R, Yeh R T, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston R H, McPherson J D, Gilman B, Schaffner S, Van Etten W J, Reich D, Higgins J, Daly M J, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody M C, Linton L, Lander E S, Altshuler D
Cold Spring Harbor, New York 11724, USA.
Nature. 2001 Feb 15;409(6822):928-33. doi: 10.1038/35057149.
We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the human genome, providing an average density on available sequence of one SNP every 1.9 kilobases. These SNPs were primarily discovered by two projects: The SNP Consortium and the analysis of clone overlaps by the International Human Genome Sequencing Consortium. The map integrates all publicly available SNPs with described genes and other genomic features. We estimate that 60,000 SNPs fall within exon (coding and untranslated regions), and 85% of exons are within 5 kb of the nearest SNP. Nucleotide diversity varies greatly across the genome, in a manner broadly consistent with a standard population genetic model of human history. This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy.
我们描绘了一幅分布于整个人类基因组的142万个单核苷酸多态性（SNP）图谱，在所获得的序列上，平均每1.9千碱基就有一个SNP，密度颇高。这些SNP主要是通过两个项目发现的：SNP联盟以及国际人类基因组测序联盟对克隆重叠区的分析。该图谱将所有公开可用的SNP与已描述的基因及其他基因组特征整合在一起。我们估计，有6万个SNP位于外显子（编码区和非翻译区）内，并且85%的外显子位于距离最近的SNP的5千碱基范围内。全基因组的核苷酸多样性差异很大，其方式与人类历史的标准群体遗传模型大致相符。这张高密度SNP图谱为定义全基因组的单倍型变异提供了一个公共资源，并且应该有助于识别用于诊断和治疗的具有生物医学重要性的基因。
