江苏省汉族人群的23个Y-STR的遗传多态性和群体遗传学分析  

Genetic polymorphisms of 23 Y-STR loci in the Jiangsu Han Population and analysis of population genetic distance

作　　者：王会品 张明明[3] 陆天宇 王珂 孙世珺 王慧君[1] WANG Huipin;ZHANG Mingming;LU Tianyu;WANG Ke;SUN Shijun;WANG Huijun(School of Forensic Medicine,Southern Medical University,Guangzhou,Guangdong 510030,China;Molecular Diagnostic Center,Zhongshan People′s Hospital,Zhongshan,Guangdong 528403,China;Huai′an Public Security Bureau,Huai′an,Jiangsu 223001,China;Qidong PublicSecurity Bureau,Nantong,Jiangsu 226000,China;Nanjing PublicSecurity Bureau,Nanjing,Jiangsu 210000,China)

机构地区：[1]南方医科大学法医学院,广州510515 [2]中山市人民医院分子诊断中心,广东中山528403 [3]淮安市公安局,江苏淮安223001 [4]启东市公安局,江苏南通226000 [5]南京市公安局,210000

出　　处：《重庆医学》2018年第18期2403-2407,共5页Chongqing medicine

基　　金：国家自然科学基金面上项目(81671873)

摘　　要：目的研究江苏省地区汉族男性无关个体的23个Y染色体上的短串联重复序列(Y-STR)基因座遗传多态性,并进行群体遗传分析。方法采集江苏省916名健康汉族男性无关个体的血液标本,通过应用PowerPlex?Y23系统对23个Y-STR基因座进行分型。采用RST值对10个江苏汉族人群中的人群差异,以及江苏汉族人群与其他18个东亚人群之间的遗传关系进行评估,并采用邻位相连树和多维标度图进行可视化分析。结果共观察到912例不同的单倍型,包含908例单独的单倍型和4例出现2次的单倍型。单倍型多样性达0.999 99,鉴别能力和匹配概率分别为0.995 6和0.001 1。基因多样性程度的取值范围中最小为DYS438(0.394 2),最大为DYS385a/b(0.960 7)。江苏各地级市邻接树中的10个江苏汉族人群并不符合地理分布,且江苏汉族人群与东亚各邻近地区人群之间的遗传差异较大。结论 23个Y-STR基因座在江苏汉族人群中呈高度多态性。Objective To investigate the genetic polymorphisms of 23 Y-chromosomal short tandem repeat（Y-STR）loci in male unrelated individuals of the Jiangsu Han population,and analyze the genetic relationships with 18 other populations.Methods Blood samples were collected from 916 unrelated healthy male individuals of the Jiangsu Han population,and the genetic polymorphisms of 23 Y-STR loci were analyzed by PowerPlex Y23 system.Genetic differences among the 10 Jiangsu Han subpopulations were evaluated by RSTvalues,and the genetic relationships between the Jiangsu Han population and 18 other East Asian populations were evaluated as well.And the genetic relationships were visualized in neighbor-joining tree and multidimensional scaling plot（MDS）.Results A total of 912 different haplotypes were observed,including 908 unique haplotypes and 4 duplicate haplotypes.The haplotype diversity reached 0.999 99,and the discrimination capacity and match probability were 0.995 6 and 0.001 1 respectively.The gene diversity values ranged from0.394 2 at DYS438 to 0.960 7 at DYS385 a/b.The neighbor-joining tree showed that the 10 Han Chinese populations in different cities of Jiangsu were not in conformity with geographical distribution,and the genetic differences between the Jiangsu Han population and other East Asia populations were large.Conclusion The23 Y-STR loci are highly polymorphic in the Jiangsu Han population.

关 键 词：江苏汉族 Y染色体 短串联重复序列 人群结构 遗传多态性 遗传距离 

分 类 号：Q987[生物学—遗传学]