重庆土家族11个Y染色体短串联重复序列多态性及与16个群体遗传关系的分析

目的 调查重庆土家族群体11个Y染色体短串联重复序列(Y-chromosomal short tandem re-peat,Y-STR)基因座的多态性分布,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215名土家族无关男性个体的11个Y-SIR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,并与国内其他16个群体相应基因座的分布进行比较,分析其遗传距离和聚类关系.结果 土家族个体中共检出195种单倍型,单倍型频率多样性0.9942,基因多样性值0.3757(DYS391)～0.9170(DYS385a/b);从遗传距离分析发现,土家族和藏族的遗传距离最小(0.02467),与朝鲜族的遗传距离最大(0.25350).结论 11个Y-STR基因座在土家族群体中具有较好的遗传多态性,适用于当地区法医学的个体识别和亲权鉴定.与其他民族群体遗传多样性的研究对了解土家族的起源、迁移以及相互关系有重要意义.

Polymorphisms of 11 Y-chromosomal short tandem repeat loci in Chongqing Tujia ethnic group and genetic relationships with 16 populations

OBJECTIVE: To investigate the genetic polymorphisms of 11 Y-chromosomal short tandem repeats (STR) loci in Chongqing Tujia population, and to evaluate their forensic application values and genetic relationships with the other 16 populations of China. METHODS: Eleven Y-STR loci in 215 unrelated Tujia individuals from Chongqing were amplified with PowerPlex Y System, and the PCR products were analyzed by 310 Genetic Analyzer. Cluster analysis and phylogenic trees were applied to show the genetic distance among the populations. RESULTS: A total of 195 haplotypes were identified and the overall haplotypes diversity for the 11 Y-STR loci was 0.9942. The gene diversity values (GD) for each locus ranged from 0.3757 (DYS391) to 0.9170 (DYS385a/b). Comparing with other 16 populations, the genetic distance between Tujia and Tibetan was the nearest (0.02467), that between the Tujia and Korean ethnic groups was the farthest (0.25350). CONCLUSION: The genetic distribution of the 11 Y-STR loci in Chongqing Tujia population showed favorable polymorphisms. They are suitable for forensic identification and paternity testing in the local area. The study of genetic diversity among different populations is useful in understanding their origins, migrations and their relationships.