四川汉族人群36个Y-STR基因座的遗传多态性与突变率调查  

An analysis of genetic polymorphism and mutation rate of 36 Y-STR loci in Sichuan Han population

作　　者：张世林 王威 张宵 施文利 丁艳杰 徐冬冬 朱晓华[1] 金波[1] Zhang Shilin;Wang Wei;Zhang Xiao;Shi Wenli;Ding Yanjie;Xu Dongdong;Zhu Xiaohua;Jin Bo(Institute of Basic Medicine and Forensic Medicine,North Sichuan Medical College,Nanchong 637000,China)

机构地区：[1]川北医学院基础医学与法医学研究所,四川南充637000

出　　处：《中国法医学杂志》2024年第5期565-571,583,共8页Chinese Journal of Forensic Medicine

基　　金：南充市2022年市校科技战略合作专项(22SXQT0014);南充市2020年市校科技战略合作专项(20SXQT0319);川北医学院2023年度校级青年项目(CBY23-QNA56)。

摘　　要：目的 探索36个Y-STR基因座在四川汉族人群中的遗传多态性和突变率,为其法医学应用提供基础数据。方法 FTA采血卡采集四川汉族人群307个无关男性个体和367对父子血样。采用Y41SE-v1.2试剂盒对36个Y-STR基因座分型,统计各基因座群体遗传学参数、突变率,并结合国内其他19个群体,对四川汉族与其他民族群体遗传关系进行分析。结果 36个Y-STR基因座在367对四川汉族父子中观察到79次突变,平均突变率为6.0×10^(-3),其中一步突变74次(93.67%),多步突变5次(6.33%)。36个Y-STR基因座在307个四川汉族男性中发现383个等位基因,各基因座的等位基因个数为5(0.016 29)到56(0.182 41)个不等,GD范围为0.100 02(DYS645)~0.959 99(DYS385),共发现306种单倍型,HD为0.999 973,DC为99.67%,HMP为0.003 284。与其他群体遗传距离(Fst)分析发现,四川汉族与重庆汉族遗传距离最近(0.000 9),与新疆蒙古族(0.032 0)遗传距离最远;基于遗传距离所构建的MDS与聚类分析结果基本相符。结论 36个Y-STR基因座在四川汉族群体中具有较高的遗传多态性,研究数据可为构建该地区Y-STR数据库提供数据支撑,也为法医学调查和群体遗传学研究提供了基础遗传学信息。Objective To explore the genetic polymorphism and mutation rate of 36 Y-STR loci in Sichuan Han population and provide basic data for their forensic applications.Methods Blood samples were collected from 307 unrelated male individuals and 367 father-son pairs in Sichuan Han population using FTA blood sampling cards.The Y41SE-v1.2 kit was used to type 36 Y-STR loci,and the population genetic parameters and mutation rates of each locus were calculated.The genetic relationship between Sichuan Han population and other ethnic populations was analyzed in combination with 19 other populations in China.Results A total of 79 mutations were observed in 36 Y-STR loci in 367 father-son pairs of Sichuan Han population,with an average mutation rate of 6.00×10^(-3).There were 74(93.67%)one-step mutations and 5(6.33%)multi-step mutations.A total of 383 alleles were found at 36 Y-STR loci in 307 Sichuan Han males.The number of alleles at each locus ranged from 5(0.01629)to 56(0.18241),GD ranged from 0.10002(DYS645)to 0.95999(DYS385),and 306 haplotypes were found.The HD,DC and HMP values were 0.999973,99.67%and 0.003284,respectively.The results of genetic distance(Fst)analysis showed that the Sichuan Han population had the closest genetic distance with the Chongqing Han population(0.0009)and the furthest genetic distance with the Xinjiang Mongolian group(0.0320).The MDS based on genetic distance was basically consistent with the results of cluster analysis.Conclusion The 36 Y-STR loci have high genetic polymorphism in the Sichuan Han population.The study data can provide data support for the construction of the Y-STR database in this region,and also provide basic genetic information for forensic investigation and population genetics research.

关 键 词：法医学 Y-STR 遗传多态性 突变率 四川汉族 

分 类 号：D919.2[医药卫生—法医学]