辽宁回族、锡伯族群体11个Y染色体短串联重复序列基因座遗传多态性及遗传关系的分析

The Y-STR polymorphisms and phylogenetic relationships of two minority populations in Liaoning province

目的调查辽宁地区回族、锡伯族群体11个Y染色体短串联重复序列（Y-chromosomal short tandem repeat，Y-STR）基因座及单倍型的遗传多态性，探讨其群体遗传学及法医学应用价值。方法应用Powerplex Y System荧光标记复合扩增系统检测204名回族、280名锡伯族无关男性个体血样的11个Y-STR基因座，用ABI310遗传分析仪进行基因分型，计算等位基因和单倍型频率，并结合已公开发表的国内其他15个群体相应基因座的遗传学资料，分析其遗传距离和聚类关系。结果回族个体中共检出187种单倍型，单倍型频率多样性0．9990，基因多样性（gene diversity，GD）值在0．4783（DYS437）～0．9679（DYS385a／b）；锡伯族个体中共榆出237种单倍型，单倍型频率多样性0．9984，基因多样性GD值在0．3618（DYS391）～0．9686（DYS385a／b）之间。遗传距离分析结果显示，回族和锡伯族的遗传距离最小（0．0257），与彝族遗传距离最大（0．1046）；锡伯族与朝鲜族遗传距离最大（0．0978）。聚类分析与系统发生树结果一致，17个群体大致分为3类。结论11个Y-STR基因座在回族、锡伯族群体中具有较好的遗传多态性，适用于该地区的法医学应用。与其他民族群体Y-STR单倍型数据的研究对了解他们的起源、迁移以及相互关系有重要意义。

Objective To investigate the genetic polymorphisms of 11 Y-chromosomal short tandem repeats（Y- STR） loci in 484 male individuals from two minority populations, the Hui and Xibe, of Liaoning province, and to evaluate their forensic application values and genetic relationships with other 15 populations of China. Methods Eleven Y- STR loci in all samples were amplified with PowerPlex Y System, and the PCR products were analyzed by 310 Genetic Analyzer. Cluster analysis and neighbor-joining tree were applied to show the genetic distance among the populations. Results In Hui people, 187 haplotypes were identified, and the overall haplotype diversity value was 0. 9990. The gene diversity values （GD） for each locus ranged from 0.4783（DYS437） to 0.9679（DYS385a/b） ; In Xibe people, 237 haplotypes were identified, and the overall haplotype diversity value was 0. 9984. The GD value for each locus ranged from 0. 3618（ DYS391 ） to 0. 9686（ DYS385a/b）. Comparing with 15 reference populations, the genetic distance between the Hui and Xibe was the nearest （0.0257）, and that between the Hui and Yi was the farthest （0. 1046）, while the genetic distance between Xibe and Korean was also the farthest （0.0978）. The NJ tree was similar to the results of clus- tering analysis and ＇all the 17 populations were clustered into 3 groups. Conclusion The genetic distribution of the 11 Y-STR loci in Liaoning Hui and Xibe ethnic groups showed favorable polymorphisms, therefore are suitable for forensic identification and paternity testing in the local area. The study of haplotype diversity among different populations is useful in understanding their origins, migrations and their relationships.