Roewer L, Kayser M, Dieltjes P, Nagy M, Bakker E, Krawczak M, de Knijff P
Institut für Gerichtliche Medizin, Humboldt-Universität, Berlin, Germany.
Hum Mol Genet. 1996 Jul;5(7):1029-33. doi: 10.1093/hmg/5.7.1029.
The analysis of seven Y-chromosome-specific microsatellite loci revealed a high level of polymorphism in two closely related human populations (Dutch, n = 89, and German, n = 70). Four of these loci were found to generate at least 77 different haplotypes, only 15 of which were shared by the two populations. These results demonstrate that highly informative PCR-based DNA typing of the Y chromosome is now feasible. Assuming a stepwise mutation model, a network comprising all minimum spanning evolutionary trees connecting the haplotypes was constructed. Analysis of molecular variance based upon this network indicated that the within-population heterogeneity with respect to haplotype descent was significantly smaller than the between-population heterogeneity, suggesting that males were more closely related to males from their own population as opposed to males from the other population. These findings suggest that Y-chromosomal microsatellites might be very useful not only for forensic purposes but also in association studies of multifactorial traits, allowing the characterization of the level of genetic distinctiveness of supposedly inbred or isolated populations and discrimination even between closely related populations.
对七个Y染色体特异性微卫星位点的分析显示，在两个密切相关的人群（荷兰人，n = 89；德国人，n = 70）中存在高度多态性。发现其中四个位点产生了至少77种不同的单倍型，其中只有15种为两个群体所共有。这些结果表明，基于PCR的Y染色体高信息量DNA分型现在是可行的。假设逐步突变模型，构建了一个包含所有连接单倍型的最小生成进化树的网络。基于该网络的分子方差分析表明，单倍型遗传方面的群体内异质性显著小于群体间异质性，这表明男性与来自同一群体的男性的亲缘关系比与来自另一群体的男性更为密切。这些发现表明，Y染色体微卫星不仅可能对法医用途非常有用，而且在多因素性状的关联研究中也很有用，能够表征假定近亲繁殖或隔离群体的遗传独特性水平，甚至能够区分密切相关的群体。
