中国汉族群体36个Y-STR基因座的遗传多态性及突变研究  

Analysis of genetic polymorphisms and mutations at the 36 Y-STR loci in Chinese Han population

作　　者：刘亚举 孙现锋 岳俊涛 李瑾 胡萌[3] 金海英 石美森 LIU Yaju;SUN Xianfeng;YUE Juntao;LI Jin;HU Meng;fiN Haiying;SHI Meisen(Institute of Criminal Science and Technology, Xuchang Public Security Bureau, Xuchang 461000, China;Criminal Investigation Team, Yuzhou Public Security Bureau;Department of Public Security Technology,Railway Police College;HEALTH Gene Technologies Incorporation;Key Laboratory of Evidence Science, Ministry of Education, China University of Political Science and Law.)

机构地区：[1]许昌市公安局刑事科学技术研究所,河南许昌461000 [2]禹州市公安局 [3]铁道警察学院公安技术系 [4]宁波海尔施基因科技有限公司 [5]中国政法大学证据科学教育部重点实验室

出　　处：《中国输血杂志》2018年第5期495-499,共5页Chinese Journal of Blood Transfusion

基　　金：国家自然科学基金(81671874)

摘　　要：目的调查36个Y-STR基因座在中国汉族群体的遗传多态性及突变情况。方法收集1 137名中国汉族无关男性个体血样和1 075对父子血样（由多实验室搜集自全国22个省市自治区）,采用SureI DPathF inder扩增体系对标本进行扩增,并进行毛细管电泳检测与分型,统计相关遗传多态性参数,观察Y-STR基因座突变情况。结果在1 137名无关男性个体中共观察到1 130种单体型,其中1 123种单体型为唯一单体型,7种单体型分别出现2次。单体型多样性（HD）为0.999 989 1,系统识别能力（DC）为0.993 843 4。36个Y-STR基因座基因多态性（GD）在0.399 6（DYS391）～0.967 7（DYS385a/b）之间。在1 075个父子对共38 700次等位基因传递中共观察到142次突变事件,其中137次突变事件为一步突变,5次突变事件为二步突变。10个父子对观察到2个基因座同时突变,1个父子对发生3个基因座同时突变。平均突变率为3.7×10^（-3）（95%,CI：3.1×10^（-3）～4.3×10^-3）。结论本文36个YSTR基因座中大多数在中国汉族人群中具有较高的遗传多态性,适合法医学应用,高突变率基因座在Y-STR数据库家系查询与父系鉴定应用中应予以关注。Objective To investigate the genetic polymorphisms and mutations of 36 Y-STR loci in Chinese Han population. Methods Blood samples of 1 137 unrelated male individuals and 1 075 father-son pairs were collected, DNA was amplified and genotyped using SureID PathFinder system. The forensic parameters and mutation rates were calculated. Results 1 130 different haplotypes were observed in the 1137 unrelated male individuals, 1 123 of which were unique haplotypes and 7 haplotypes occurred twice. The haplotype diversity（HD）was 0. 999 989 1 with a discriminative capacity（DC）of 0. 993 843 4. The gene diversity at the 36 Y-STR loci ranged from 0. 399 6（ DYS391 ）to 0. 967 7.（DYS385a/b）. Among 38 700 allele transfers in the 1 075 father-son pairs, 142 mutation events were detected. 137/142 were single-repeated mutations, 5 mutations were two-step mutations. 10 father-son pairs presented mutations at 2 different loci while 1 father-son pair was confirmed with 3 mutations. The average mutation rate was 3.7× 10^ （-3）（95%, CI：3.1 × 10^（-3 ）-4. 3 × 10^（-3））. Conclusion Most of the 36 Y-STR loci in this study are highly polymorphic and are suitable for forensic application. The loci with high mutation rate should be carefully considered for the Y-STR database searching and patrilineal identification occasions.

关 键 词：法医遗传学 Y-STR 遗传多态性 基因突变率 

分 类 号：R457.11[医药卫生—治疗学] R394.5[医药卫生—临床医学]