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Y染色体特异区呈父系单倍型遗传,其基因标记是近年来遗传学的研究热点。本研究应用27个荧光标记Y染色体STR基因座复合扩增系统,对中原地区汉族3 951名男性无关个体进行Y染色体短串联重复序列遗传多态性研究,以获得中原汉族人群的遗传信息。结果显示27个Y-STR基因座在中原地区汉族3 951名男性无关个体中检出3 944种单倍型,单倍型多样性为0.999 683,单倍型数目最多的两个基因座分别是DYS385和DYF387S1,分别检出95种和65种单倍型,其余基因座分别检出5~19种单倍型。27个基因座的基因多样性在0.377 2~0.969 1之间,累计基因多态性达0.999 999。同时将DYS385、DYS391和DYS438这3个基因座的基因多样性和湖南、湖北、浙江、广州、辽宁、闽南汉族及广西彝族进行比较分析。据本研究结果可知27个Y-STR基因座在中原汉族人群中具有丰富的遗传多态性,其数据为群体遗传学研究、法医学应用及Y-STR数据库建设提供数据支撑。
Y chromosome specific region was paternal haplotype inheritance, genetic markers in recent years, genetic research hot spots. In this study, 27 fluorescently labeled Y chromosome STR loci multiplex amplification system was used to investigate the genetic polymorphism of 3 951 male unrelated individuals in the Central Plains from the Y chromosome short tandem repeat genetic polymorphism to obtain the genetic information of the Central Han Chinese population. The results showed that 279 Y-STR loci detected 3 944 haplotypes among 3 951 male unrelated individuals of Han nationality in Central Plains. The haplotype diversity was 0.999 683. The two most common haplotype loci were 95 and 65 haplotypes were detected in DYS385 and DYF387S1, respectively, and 5 to 19 haplotypes were detected in the remaining loci. The genetic diversity of 27 loci was between 0.377 2 and 0.969 1, with a cumulative genetic polymorphism of 0.999 999. At the same time, the genetic diversity of DYS385, DYS391 and DYS438 was compared with that of Hunan, Hubei, Zhejiang, Guangzhou, Liaoning, Minnan and Guangxi Yi. According to the results of this study, 27 Y-STR loci have abundant genetic polymorphisms in Zhongyuan Han population, and the data provide data support for population genetics research, forensic application and Y-STR database construction.