Deka R, Shriver M D, Yu L M, Ferrell R E, Chakraborty R
Department of Human Genetics, University of Pittsburgh, PA 15261, USA.
Electrophoresis. 1995 Sep;16(9):1659-64. doi: 10.1002/elps.11501601275.
To study the level of intra- and inter-population variation at hypervariable DNA loci, we have characterized 15 human populations of diverse ethnic and geographic origins at six short tandem repeat loci by using the polymerase chain reaction. Even though the spectrum of allelic variation is quite broad and there are substantial differences in allele frequency distributions among populations, in general, population within a major racial group show a greater degree of similarity. This observation is reflected in the analysis of gene diversity. When the total diversity is apportioned, the maximum variation becomes attributable to inter-individual differences within a population; of the variation that is attributed to differences between populations within a racial group and differences between racial groups, namely, African, Caucasian, and Mongoloid, than the American Indians and the Pacific Islanders. As expected, a reciprocal relationship between gene diversity and FST levels is observed. Higher values of FST in the American Indian and the Pacific Islanders may reflect smaller population size and a higher level of isolation. An analysis of genetic distance encompassing the populations belonging to the three major racial groups recognizes three distinct clusters - all the populations of African affiliation cluster together, as do the Caucasian affiliated and the Mongoloid groups, in two distinct clusters. Interestingly, three broadly classified cosmopolitan US populations, namely, US White, US Black and US Asian, cluster with their ancestrally related populations. This study dispels some of the concerns regarding the applicability of DNA typing data for forensic use.
为了研究高变DNA位点的群体内和群体间变异水平,我们利用聚合酶链反应,对15个不同种族和地理起源的人类群体在6个短串联重复位点进行了特征分析。尽管等位基因变异谱相当广泛,且群体间等位基因频率分布存在显著差异,但总体而言,主要种族群体内的群体表现出更高程度的相似性。这一观察结果在基因多样性分析中得到了体现。当对总多样性进行分配时,最大变异归因于群体内个体间的差异;在归因于种族群体内群体间差异和种族群体间差异(即非洲人、高加索人和蒙古人种)的变异中,美洲印第安人和太平洋岛民的变异比其他群体少。正如预期的那样,观察到基因多样性与FST水平之间存在反比关系。美洲印第安人和太平洋岛民较高的FST值可能反映了较小的群体规模和较高的隔离水平。对包括三个主要种族群体的群体进行的遗传距离分析识别出三个不同的聚类——所有非洲裔群体聚在一起,高加索裔群体和蒙古人种群体分别聚在两个不同的聚类中。有趣的是,三个大致分类的美国世界性群体,即美国白人、美国黑人和美国亚裔,与其祖先相关群体聚在一起。这项研究消除了一些关于DNA分型数据在法医用途适用性的担忧。