High-density single-nucleotide polymorphism maps of the human genome
High-density single-nucleotide polymorphism maps of the human genome
复制标题
DOI：
10.1016/j.ygeno.2005.04.012
复制
发表时间：
2005-08-01
期刊：
影响因子：
4.4
通讯作者：
Kwok, PY
中科院分区：
文献类型：
--
作者：
Miller, RD;Phillips, MS;Kwok, PY
在这里，我们报告了一个大的，广泛表征的单核苷酸多态性（snp）覆盖人类基因组。作为SNP联盟等位基因频率项目的一部分，我们确定了非裔美国人、亚洲人（日裔中国人）和欧裔美国人的55,018个SNP的等位基因频率。在韩国人身上也发现了8333个snp。由于这些snp是以相同的方式确定的，因此该数据集对建模特别有用。我们的研究结果表明，许多遗传变异在人群中是共享的。对于常染色体，大约44%的snp在每个人群中都有一个较小的等位基因频率>= 10%，不同大陆起源人群之间的平均等位基因频率差异小于19%。然而，在密切相关的韩国、日本和中国人群中，几个百分点的等位基因频率差异表明，在使用已建立的人群的混合物进行复杂性状的病例对照遗传研究时要谨慎。我们估计，这些snp中约有7%是次要等位基因频率< 1%的私有snp。一组有用的具有较大等位基因频率差异（约60%）的特征snp可用于混合研究。该项目制作的高质量、特征snp的高密度地图可以免费获得。(c) 2005爱思唯尔公司版权所有。
Here we report a large, extensively characterized set of single-nucleotide polymorphisms (SNPs) covering the human genome. We determined the allele frequencies of 55,018 SNPs in African Americans, Asians (Japanese-Chinese), and European Americans as part of The SNP Consortium's Allele Frequency Project. A subset of 8333 SNPs was also characterized in Koreans. Because these SNPs were ascertained in the same way, the data set is particularly useful for modeling. Our results document that much genetic variation is shared among populations. For autosomes, some 44% of these SNPs have a minor allele frequency >= 10% in each population, and the average allele frequency differences between populations with different continental origins are less than 19%. However, the several percentage point allele frequency differences among the closely related Korean, Japanese, and Chinese populations suggest caution in using mixtures of well-established populations for case-control genetic studies of complex traits. We estimate that similar to 7% of these SNPs are private SNPs with minor allele frequencies < 1%. A useful set of characterized SNPs with large allele frequency differences between populations (> 60%) can be used for admixture studies. High-density maps of high-quality, characterized SNPs produced by this project are freely available. (c) 2005 Elsevier Inc. All rights reserved.