Deka R, Chakraborty R, DeCroo S, Rothhammer F, Barton S A, Ferrell R E
Department of Human Genetics, University of Pittsburgh, PA 15261.
Am J Hum Genet. 1992 Dec;51(6):1325-33.
We have analyzed the allele frequency distribution at the hypervariable locus 3' to the apolipoprotein B gene (ApoB 3' VNTR) in five well-defined human populations (Kacharis of northeast India, New Guinea Highlanders of Papua New Guinea, Dogrib Indians of Canada, Pehuenche Indians of Chile, and a relatively homogeneous Caucasian population of northern German extraction) by using the PCR technique. A total of 12 segregating alleles were detected in the pooled sample of 319 individuals. A fairly consistent bimodal pattern of allele frequency distribution, apparent in most of these geographically and genetically diverse populations, suggests that the ApoB 3' VNTR polymorphism predates the geographic dispersal of ancestral human populations. In spite of the observed high degree of polymorphism at this locus (expected heterozygosity levels 55%-78%), the genotype distributions in all populations (irrespective of their tribal or cosmopolitan nature) conform to their respective Hardy-Weinberg predictions. Furthermore, analysis of the congruence between expected heterozygosity and the observed number of alleles reveals that, in general, the allele frequency distributions at this locus are in agreement with the predictions of the classical mutation-drift models. The data also show that alleles that are shared by all populations have the highest average frequency within populations. These findings demonstrate the potential utility of highly informative hypervariable loci such as the ApoB 3' VNTR locus in population genetic research, as well as in forensic medicine and determination of biological relatedness of individuals.
我们运用聚合酶链反应（PCR）技术，分析了五个明确界定的人类群体（印度东北部的卡查里斯人、巴布亚新几内亚的新几内亚高地人、加拿大的多格里布印第安人、智利的佩温切印第安人，以及具有相对同质性的、有德国北部血统的高加索人群体）载脂蛋白B基因（ApoB 3' VNTR）高变位点3'端的等位基因频率分布。在319名个体的混合样本中，共检测到12个分离等位基因。在这些地理和遗传背景各异的大多数群体中，等位基因频率分布呈现出相当一致的双峰模式，这表明ApoB 3' VNTR多态性早于人类祖先群体的地理扩散。尽管在该位点观察到高度多态性（预期杂合度水平为55%-78%），但所有群体（无论其部落性质或世界性特征）的基因型分布均符合各自的哈迪-温伯格预期。此外，对预期杂合度与观察到的等位基因数量之间一致性的分析表明，总体而言，该位点的等位基因频率分布与经典突变-漂变模型的预测相符。数据还显示，所有群体共有的等位基因在群体中的平均频率最高。这些发现证明了高信息含量的高变位点，如ApoB 3' VNTR位点，在群体遗传学研究、法医学以及个体生物学亲缘关系判定中的潜在用途。
