Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.
Genomics. 2010 Oct;96(4):199-210. doi: 10.1016/j.ygeno.2010.07.004. Epub 2010 Jul 16.
High-throughput genotyping data are useful for making inferences about human evolutionary history. However, the populations sampled to date are unevenly distributed, and some areas (e.g., South and Central Asia) have rarely been sampled in large-scale studies. To assess human genetic variation more evenly, we sampled 296 individuals from 13 worldwide populations that are not covered by previous studies. By combining these samples with a data set from our laboratory and the HapMap II samples, we assembled a final dataset of ~250,000 SNPs in 850 individuals from 40 populations. With more uniform sampling, the estimate of global genetic differentiation (F(ST)) substantially decreases from ~16% with the HapMap II samples to ~11%. A panel of copy number variations typed in the same populations shows patterns of diversity similar to the SNP data, with highest diversity in African populations. This unique sample collection also permits new inferences about human evolutionary history. The comparison of haplotype variation among populations supports a single out-of-Africa migration event and suggests that the founding population of Eurasia may have been relatively large but isolated from Africans for a period of time. We also found a substantial affinity between populations from central Asia (Kyrgyzstani and Mongolian Buryat) and America, suggesting a central Asian contribution to New World founder populations.
高通量基因分型数据可用于推断人类进化史。然而,迄今为止采样的人群分布不均,一些地区(如南亚和中亚)在大规模研究中很少被采样。为了更均匀地评估人类遗传变异,我们从以前研究未涵盖的 13 个全球人群中抽取了 296 个人作为样本。通过将这些样本与我们实验室的数据以及 HapMap II 样本相结合,我们在 40 个群体的 850 个人中组装了一个包含约 25 万个 SNP 的最终数据集。通过更均匀的采样,全球遗传分化(F(ST))的估计值从 HapMap II 样本的约 16%显著降低至约 11%。在相同人群中检测到的一组拷贝数变异显示出与 SNP 数据相似的多样性模式,非洲人群的多样性最高。这种独特的样本采集还可以对人类进化史进行新的推断。对人群间单倍型变异的比较支持了一次单一的走出非洲迁移事件,并表明欧亚大陆的创始人群可能相对较大,但在一段时间内与非洲人隔离。我们还发现中亚人群(吉尔吉斯斯坦和蒙古布里亚特)与美洲人群之间存在很大的亲缘关系,表明中亚对新世界创始人群有一定的贡献。