Marth G, Yeh R, Minton M, Donaldson R, Li Q, Duan S, Davenport R, Miller R D, Kwok P Y
National Center for Biotechnology Information, Bethesda, Maryland, USA.
Nat Genet. 2001 Apr;27(4):371-2. doi: 10.1038/86864.
There is a concerted effort by a number of public and private groups to identify a large set of human single-nucleotide polymorphisms (SNPs). As of March 2001, 2.84 million SNPs have been deposited in the public database, dbSNP, at the National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/SNP/). The 2.84 million SNPs can be grouped into 1.65 million non-redundant SNPs. As part of the International SNP Map Working Group, we recently published a high-density SNP map of the human genome consisting of 1.42 million SNPs (ref. 3). In addition, numerous SNPs are maintained in proprietary databases. Our survey of more than 1,200 SNPs indicates that more than 80% of TSC and Washington University candidate SNPs are polymorphic and that approximately 50% of the candidate SNPs from these two sources are common SNPs (with minor allele frequency of > or =20%) in any given population.
许多公共和私人团体正在齐心协力鉴定出大量的人类单核苷酸多态性（SNP）。截至2001年3月，已有284万个SNP存入位于美国国立生物技术信息中心（http://www.ncbi.nlm.nih.gov/SNP/）的公共数据库dbSNP中。这284万个SNP可被归为165万个非冗余SNP。作为国际SNP图谱工作组的一部分，我们最近发表了一张人类基因组的高密度SNP图谱，其中包含142万个SNP（参考文献3）。此外，许多SNP保存在专有数据库中。我们对1200多个SNP的调查表明，超过80%的TSC和华盛顿大学的候选SNP具有多态性，并且在任何给定人群中，来自这两个来源的候选SNP中约有50%是常见SNP（次要等位基因频率≥20%）。
