Nei M, Roychoudhury A K
Institute of Molecular Evolutionary Genetics, Pennsylvania State University, University Park 16802-5303.
Mol Biol Evol. 1993 Sep;10(5):927-43. doi: 10.1093/oxfordjournals.molbev.a040059.
Using gene frequency data for 29 polymorphic loci (121 alleles), we conducted a phylogenetic analysis of 26 representative populations from around the world by using the neighbor-joining (NJ) method. We also conducted a separate analysis of 15 populations by using data for 33 polymorphic loci. These analyses have shown that the first major split of the phylogenetic tree separates Africans from non-Africans and that this split occurs with a 100% bootstrap probability. The second split separates Caucasian populations from all other non-African populations, and this split is also supported by bootstrap tests. The third major split occurs between Native American populations and the Greater Asians that include East Asians (mongoloids), Pacific Islanders, and Australopapuans (native Australians and Papua New Guineans), but Australopapuans are genetically quite different from the rest of the Greater Asians. The second and third levels of population splitting are quite different from those of the phylogenetic tree obtained by Cavalli-Sforza et al. (1988), where Caucasians, Northeast Asians, and Ameridians from the Northeurasian supercluster and the rest of non-Africans form the Southeast Asian supercluster. One of the major factors that caused the difference between the two trees is that Cavalli-Sforza et al. used unweighted pair-group method with arithmetic mean (UPGMA) in phylogenetic inference, whereas we used the NJ method in which evolutionary rate is allowed to vary among different populations. Bootstrap tests have shown that the UPGMA tree receives poor statistical support whereas the NJ tree is well supported. Implications that the phylogenetic tree obtained has on the current controversy over the out-of-Africa and the multiregional theories of human origins are discussed.
利用29个多态位点（121个等位基因）的基因频率数据，我们采用邻接法（NJ）对来自世界各地的26个代表性人群进行了系统发育分析。我们还利用33个多态位点的数据对15个群体进行了单独分析。这些分析表明，系统发育树的第一次主要分支将非洲人与非非洲人分开，并且这种分支以100%的自展概率出现。第二次分支将高加索人群与所有其他非非洲人群分开，并且这种分支也得到了自展检验的支持。第三次主要分支发生在美洲原住民群体与包括东亚人（蒙古人种）、太平洋岛民和澳大利亚巴布亚人（澳大利亚原住民和巴布亚新几内亚人）在内的广义亚洲人之间，但澳大利亚巴布亚人与其他广义亚洲人在基因上有很大差异。人群分裂的第二和第三层次与Cavalli-Sforza等人（1988年）得到的系统发育树有很大不同，在该树中，来自北欧亚超级集群的高加索人、东北亚人和美洲印第安人与其余非非洲人形成东南亚超级集群。导致两棵树之间差异的一个主要因素是，Cavalli-Sforza等人在系统发育推断中使用了算术平均的不加权配对组方法（UPGMA），而我们使用了允许进化速率在不同群体间变化的NJ方法。自展检验表明，UPGMA树得到的统计支持较差，而NJ树得到了很好的支持。文中讨论了所得到的系统发育树对当前关于人类起源的非洲起源说和多地区起源说之争的影响。
