Whittam T S, Clark A G, Stoneking M, Cann R L, Wilson A C
Proc Natl Acad Sci U S A. 1986 Dec;83(24):9611-5. doi: 10.1073/pnas.83.24.9611.
Restriction maps of 145 human mtDNAs representing samples from five geographic regions were used to construct multilocus genotypes for 28 genetic loci of the mitochondrial genome. Alleles were defined as distinct combinations of the presence or absence of polymorphic restriction sites within each locus. The 28 loci included 13 genes encoding proteins, 10 genes specifying tRNAs, 2 genes specifying rRNAs, and 3 noncoding regions consisting of the D loop, the light strand origin of replication, and the 5' noncoding sequence. In 35 comparisons of allele frequency distributions to expected distributions predicted by neutral mutation theory (assuming an infinite alleles model), the results revealed that most genetic diversity values (71%) fell within the range predicted by the neutral model; however, excesses in the frequencies of common alleles and in the number of singleton alleles within populations were observed at specific loci. Departures from the neutral mutation model are most readily explained by the effects of the recent expansion of the human population and the action of purifying selection. Coefficients of population differentiation suggest that gene flow of mtDNA types between certain geographic regions may be limited.
利用代表五个地理区域样本的145个人类线粒体DNA的限制酶切图谱，构建线粒体基因组28个基因座的多位点基因型。等位基因被定义为每个基因座内多态性限制酶切位点存在或不存在的不同组合。这28个基因座包括13个编码蛋白质的基因、10个指定tRNA的基因、2个指定rRNA的基因，以及3个非编码区域，由D环、轻链复制起点和5'非编码序列组成。在35次将等位基因频率分布与中性突变理论预测的预期分布（假设无限等位基因模型）进行比较中，结果显示大多数遗传多样性值（71%）落在中性模型预测的范围内；然而，在特定基因座观察到群体内常见等位基因频率和单态等位基因数量过多。偏离中性突变模型最容易用人类群体近期扩张的影响和纯化选择的作用来解释。群体分化系数表明，某些地理区域之间线粒体DNA类型的基因流动可能受到限制。
