Bastos-Rodrigues Luciana, Pimenta Juliana R, Pena Sergio D J
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, 31270-910 Belo Horizonte, BrazilGENE - Núcleo de Genética Médica, 30130-909 Belo Horizonte, MG.
Ann Hum Genet. 2006 Sep;70(5):658-665. doi: 10.1111/j.1469-1809.2006.00287.x. Epub 2006 Mar 29.
In a landmark study Rosenberg et al. (2002) analyzed human genome diversity with 377 microsatellites in the HGDP-CEPH Genome Diversity Panel and reported that the populations were structured into five geographical regions: America, Sub-Saharan Africa, East Asia, Oceania and a cluster composed of Europe, the Middle East and Central Asia. They also observed that the within-population component accounted for 93-95%, and that the among-regions portion was only 3.6%, of the total genetic variance. We have also studied the HGDP-CEPH Diversity Panel (1064 individuals from 52 populations) with a set of 40 biallelic slow-evolving short insertion-deletion polymorphisms (indels). We confirmed the partition of worldwide diversity into five genetic clusters that correspond to major geographic regions. Using the indels we have also disclosed an among-regions component of genetic variance considerably larger (12.1%) than had been estimated using microsatellites. Our study demonstrates that a set of 40 well-chosen biallelic markers is sufficient for the characterization of human population structure at the global level.
在一项具有里程碑意义的研究中，罗森伯格等人（2002年）利用人类基因组多样性计划-CEPH基因组多样性面板中的377个微卫星分析了人类基因组多样性，并报告说这些人群被划分为五个地理区域：美洲、撒哈拉以南非洲、东亚、大洋洲以及一个由欧洲、中东和中亚组成的集群。他们还观察到，在总遗传变异中，群体内成分占93%-95%，而区域间部分仅占3.6%。我们还使用一组40个双等位基因缓慢进化的短插入-缺失多态性（indels）研究了人类基因组多样性计划-CEPH多样性面板（来自52个群体的1064个个体）。我们证实了全球多样性被划分为五个与主要地理区域相对应的遗传集群。利用这些indels，我们还发现遗传变异的区域间成分比使用微卫星估计的要大得多（12.1%）。我们的研究表明，一组精心挑选的40个双等位基因标记足以在全球层面表征人类群体结构。
