Deka R, Chakroborty R, Ferrell R E
Department of Human Genetics, University of Pittsburgh, Pennsylvania 15261.
Genomics. 1991 Sep;11(1):83-92. doi: 10.1016/0888-7543(91)90104-m.
To investigate the population genetic characteristics of VNTR polymorphisms in human populations, we have studied the allele frequency distribution of six VNTR loci (D1S57, RB1, D1S77, D1S61, alpha-globin 5'HVR, D1S76) in three well-defined populations (Kachari of Northeast India; Dogrib Indian of Canada; and New Guinea Highlander of Papua New Guinea). Even though the number of alleles sampled is limited, 48 to 92 alleles per locus per population, significant variation is noticed in the number of alleles per locus for all the populations. Using alternate summary measures, we have observed that genotype distributions at the six VNTR loci apparently conform to their respective Hardy-Weinberg predictions. Multilocus genotype profiles of the individuals in each of the three populations suggest that the VNTR alleles are independently segregating with the exception of the two linked loci D1S76 and D1S77. Lack of fit of all VNTR loci to one particular model of mutational change, either the Infinite Allele Model or the Stepwise Mutation Model, suggests more than one mechanism for production of new VNTR alleles. This study also indicates that increased heterozygosity at VNTR loci in comparison to protein and blood group loci may lead to more accurate estimates of genetic distance.
为了研究人类群体中VNTR多态性的群体遗传特征，我们研究了三个明确界定的群体（印度东北部的卡查里人；加拿大的多格里布印第安人；巴布亚新几内亚的新几内亚高地人）中六个VNTR位点（D1S57、RB1、D1S77、D1S61、α-珠蛋白5'HVR、D1S76）的等位基因频率分布。尽管每个群体每个位点采样的等位基因数量有限，即每个群体每个位点有48至92个等位基因，但所有群体每个位点的等位基因数量都存在显著差异。使用替代汇总指标，我们观察到六个VNTR位点的基因型分布显然符合各自的哈迪-温伯格预测。三个群体中每个个体的多位点基因型图谱表明，除了两个连锁位点D1S76和D1S77外，VNTR等位基因是独立分离的。所有VNTR位点均不符合特定的突变变化模型，无论是无限等位基因模型还是逐步突变模型，这表明产生新的VNTR等位基因的机制不止一种。这项研究还表明，与蛋白质和血型位点相比，VNTR位点杂合度的增加可能会导致对遗传距离的估计更加准确。
