Poloni E S, Semino O, Passarino G, Santachiara-Benerecetti A S, Dupanloup I, Langaney A, Excoffier L
Département d'Anthropologie et Ecologie, Université de Genève, Carouge, Switzerland.
Am J Hum Genet. 1997 Nov;61(5):1015-35. doi: 10.1086/301602.
Numerous population samples from around the world have been tested for Y chromosome-specific p49a,f/TaqI restriction polymorphisms. Here we review the literature as well as unpublished data on Y-chromosome p49a,f/TaqI haplotypes and provide a new nomenclature unifying the notations used by different laboratories. We use this large data set to study worldwide genetic variability of human populations for this paternally transmitted chromosome segment. We observe, for the Y chromosome, an important level of population genetics structure among human populations (FST = .230, P < .001), mainly due to genetic differences among distinct linguistic groups of populations (FCT = .246, P < .001). A multivariate analysis based on genetic distances between populations shows that human population structure inferred from the Y chromosome corresponds broadly to language families (r = .567, P < .001), in agreement with autosomal and mitochondrial data. Times of divergence of linguistic families, estimated from their internal level of genetic differentiation, are fairly concordant with current archaeological and linguistic hypotheses. Variability of the p49a,f/TaqI polymorphic marker is also significantly correlated with the geographic location of the populations (r = .613, P < .001), reflecting the fact that distinct linguistic groups generally also occupy distinct geographic areas. Comparison of Y-chromosome and mtDNA RFLPs in a restricted set of populations shows a globally high level of congruence, but it also allows identification of unequal maternal and paternal contributions to the gene pool of several populations.
来自世界各地的众多人群样本都已接受Y染色体特异性p49a,f/TaqI限制性多态性检测。在此，我们回顾了关于Y染色体p49a,f/TaqI单倍型的文献以及未发表的数据，并提供了一种新的命名法，统一了不同实验室所使用的表示方法。我们利用这个庞大的数据集来研究人类群体中这一父系遗传染色体片段的全球遗传变异性。我们观察到，对于Y染色体而言，人类群体之间存在重要程度的群体遗传学结构（FST = 0.230，P < 0.001），这主要是由于不同语言群体之间的遗传差异（FCT = 0.246，P < 0.001）。基于群体间遗传距离的多变量分析表明，从Y染色体推断出的人类群体结构大致与语系相对应（r = 0.567，P < 0.001），这与常染色体和线粒体数据一致。根据语系内部的遗传分化水平估算出的语系分化时间，与当前的考古学和语言学假设相当一致。p49a,f/TaqI多态性标记的变异性也与群体的地理位置显著相关（r = 0.613，P < 0.001），这反映出不同语言群体通常也占据着不同地理区域这一事实。在一组有限的群体中对Y染色体和线粒体DNA限制性片段长度多态性进行比较，结果显示总体上一致性较高，但也能够识别出母系和父系对几个群体基因库的贡献存在差异。
