山西运城汉族群体23个常染色体STR基因座遗传多态性  

Genetic polymorphism of 23 autosomal STR loci in Han population from Yuncheng,Shanxi Province

作　　者：高红艳 余舰 冯小丹[4] 吴孝宏 罗丽 李贤凤 刘超 陈鹏宇 GAO Hongyan;YU Jian;FENG Xiaodan;WU Xiaohong;LUO Li;LI Xianfeng;LIU Chao;CHEN Pengyu(Key Laboratory of Cell Engineering in Guizhou Province,Affiliated Hospital of Zunyi Medical University,Zunyi Guizhou 563099;Medical School,Pingdingshan University,Pingdingshan Henan 467000;Center of Forensic Expertise,Affiliated Hospital of Zunyi Medical University,Zunyi Guizhou 563099;Wuhou Subbureau,Chengdu Public Security Bureau,Chengdu 610041;Meitan Public Security Bureau,Zunyi Guizhou 563003;Department of Medical Genetics,Zunyi Medical University,Zunyi Guizhou 563099,China)

机构地区：[1]遵义医科大学附属医院,贵州省细胞工程重点实验室,贵州遵义563099 [2]平顶山学院医学院,河南平顶山467000 [3]遵义医科大学附属医院法医鉴定中心,贵州遵义563099 [4]成都市公安局武侯区分局,成都610041 [5]湄潭县公安局,贵州遵义563003 [6]遵义医科大学医学遗传学教研室,贵州遵义563099

出　　处：《中南大学学报（医学版）》2021年第4期351-360,共10页Journal of Central South University ：Medical Science

摘　　要：目的:短串联重复序列(short tandem repeat,STR)因其高度多态性的遗传学特征,在法医遗传学、分子人类学、群体遗传学等领域发挥了重要作用。新开发的复合检测体系由于采用了更多数目的STR基因座而具有更高的分辨能力和应用价值。遗传多态性研究是STR在特定人群中应用的前提。本研究评估山西运城地区汉族人群23个STR基因座的遗传多态性在法医学个人识别和亲子鉴定中的应用价值,并分析山西运城汉族与其他不同群体的遗传关系。方法:应用AGCU EX25扩增试剂盒对来自山西运城汉族的525例健康无关个体进行23个STR基因座的复合扩增,ABI 3500遗传分析仪对扩增产物进行电泳分离,GeneMapperv 3.2软件进行基因分型,统计各基因座等位基因频率及法医学参数;并结合已公开报道的其他13个群体等位基因频率数据,计算群体间遗传距离,构建系统发生树。结果:23个STR基因座的等位基因频率分布为0.0010~0.5090,各基因座基因型分布符合Hardy-Weinberg平衡(P>0.05);23个STR累积个人识别率(cumulative power of discrimination,CPD),累积三联体非父排除率(cumulative power of exclusion for trios,CPE_(trio))、累计二联体非父排除率(cumulative power of exclusion for duos,CPE_(duo))分别为1-1.3052633748×10^(-27)、1-2.5831520522×10^(-10)和1-1.1936375004×10^(-6)。群体比较结果显示山西运城汉族与陕西渭南汉族、宁波汉族、辽宁汉族等同语系或地理位置较近的群体遗传关系较近,与新疆维吾尔族、广东汉族等不同语系或地理位置较远群体的遗传关系较远。结论:23个STR组成的复合体系较传统的STR复合体系具有更高的遗传多态性和鉴别能力,能更好地应用于山西运城汉族人群的法医学个人识别、亲子鉴定及群体遗传学研究中。Objective:Due to the genetic feature of high diversity than other DNA markers,short tandem repeat(STR)plays key roles in forensic,anthropology,and population genetics.Newly introduced multiple STR kit is more valuable because of the greatly improved discriminatory power with the increase in the number of STR loci.The genetic polymorphic data are essential for the application and research in specific population.This study aims to investigate the genetic polymorphism of Han population residing in Yuncheng district,Shanxi Province,to evaluate the application of 23 STR loci in forensic personal identification and paternity test,and to explore the genetic relationship of Han population between Yuncheng and other populations.Methods:A total of 23 STR loci were amplified from 525 healthy unrelated individuals from the Han nationality in Yuncheng,Shanxi Province using the AGCU EX25 amplification kit.The products were detected and separated by ABI 3500 Genetic Analyzer.Alleles were genotyped by GeneMapper ID(Version 3.2)software,and corresponding frequencies and forensic parameters were calculated.We calculated the genetic distance and plotted the neighboring-joining tree with other 13 population.Results:The allele frequency of the 23 STRs ranged from 0.0010 to 0.5090.No deviation from Hardy-Weinberg equilibrium(P>0.05)and linkage disequilibrium was observed.The cumulative discriminatory power(CPD),cumulative power of exclusion for trios(CPE_(trio))and cumulative Power of exclusion for duos(CPE_(duo))with total 23 STRs were 1-1.3052633748×10^(-27),1-2.5831520522×10^(-10)and 1-1.1936375004×10^(-6),respectively.Comprehensive population comparison showed that Shanxi Yuncheng Han nationality was genetically closer to populations of the same linguistic family or geographically close proximity,such as Shaanxi Weinan Han,Liaoning Han,and Ningbo Han nationality while relatively far away from different linguistic ethnic groups and geographically distant populations like Xinjiang Uygur and Guangdong Han nationality.Conclusion:Th

关 键 词：短串联重复序列 遗传多态性 山西运城汉族 群体遗传 AGCU EX25 

分 类 号：R394[医药卫生—医学遗传学]