Flint J, Bond J, Rees D C, Boyce A J, Roberts-Thomson J M, Excoffier L, Clegg J B, Beaumont M A, Nichols R A, Harding R M
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
Hum Genet. 1999 Dec;105(6):567-76. doi: 10.1007/s004399900185.
We have used a new method for binning minisatellite alleles (semi-automated allele aggregation) and report the extent of population diversity detectable by eleven minisatellite loci in 2,689 individuals from 19 human populations distributed widely throughout the world. Whereas population relationships are consistent with those found in other studies, our estimate of genetic differentiation (F(st)) between populations is less than 8%, which is lower than comparative estimates of between 10%-15% obtained by using other sources of polymorphism data. We infer that mutational processes are involved in reducing F(st) estimates from minisatellite data because, first, the lowest F(st) estimates are found at loci showing autocorrelated frequencies among alleles of similar size and, second, F(st) declines with heterozygosity but by more than predicted assuming simple models of mutation. These conclusions are consistent with the view that minisatellites are subject to selective or mutational constraints in addition to those expected under simple step-wise mutation models.
我们采用了一种新的方法对小卫星等位基因进行归类(半自动等位基因聚合),并报告了分布于全球的19个人类群体中2689个个体的11个小卫星位点所检测到的群体多样性程度。尽管群体关系与其他研究结果一致,但我们对群体间遗传分化(Fst)的估计小于8%,低于使用其他多态性数据来源所获得的10%-15%的比较估计值。我们推断,突变过程参与了从小卫星数据中降低Fst估计值,因为,首先,在等位基因大小相似的等位基因频率呈现自相关的位点发现了最低的Fst估计值;其次,Fst随杂合度下降,但下降幅度超过了假设简单突变模型所预测的幅度。这些结论与以下观点一致,即除了简单逐步突变模型所预期的约束外,小卫星还受到选择性或突变性约束。