26个Y-STR基因座遗传多态性及突变调查  

Genetic polymorphisms and mutations analysis of 26 Y-STRs

作　　者：莫晓婷[1,2] 马温华[1,2] 王科 邓党军 邹广发 王宝军 Mo Xiaoting;Ma Wenhua;Wang Ke;Deng Dangjun;Zou Guangfa;Wang Baojun(Beijing Engineering Research Center of Crime Scene Evidence Examination,Institute of Forensic Science,Beijing,P.R.China,100038;Key Laboratory of Forensic Genetics,Institute of Forensic Science,Ministry of Public Security,Beijing,P.R.China,Beijing,100038,China;Chongqing key laboratory of forensic evidence technology,Chongqing,400000;Public security bureau of DaQing,Criminal Technology Department,Da-qing,163316)

机构地区：[1]公安部物证鉴定中心北京市现场物证检验工程技术研究中心,北京100038 [2]公安部物证鉴定中心法医遗传学公安部重点实验室,北京100038 [3]犯罪现场法医物证技术重庆市重点实验室,重庆400000 [4]大庆市公安局刑事技术支队,黑龙江大庆163316

出　　处：《中国法医学杂志》2021年第1期66-69,共4页Chinese Journal of Forensic Medicine

基　　金：公安部科技强警基础工作专项(2018GABJC13,2019GABJC16);公安部技术研究计划项目(2019JSYJC08);北京市现场物证检验工程中心开放课题(2019CSEEKFKT02)。

摘　　要：目的调查26个Y-STR基因座的突变率和遗传多态性,研究其法医学应用效能。方法本文以575对蒙古族父子对为模板,统计26个Y-STR基因座的突变率,并且研究26个Y-STR基因座在黑龙江省蒙古族、江西省汉族及福州市汉族等3个地区777个无关男性个体中的遗传多态性,评估该试剂盒的法医学应用价值。结果26个Y-STR基因座在575个蒙古族父子对中观察到52次突变,在46个父子对中观察到突变现象,平均突变速率为1.93×10^(-3)。遗传多态性研究中,黑龙江236名蒙古族检出235种分型,单倍型多样性为0.999964;323名福建汉族检测出320种分型,单倍型多样性为0.999942;218名江西汉族检测出217种分型,单倍型多样性为0.999958。结论快速突变基因座可以帮助增加系统的识别能力,但在Y-STR数据库家系查询应注意突变的影响。系统中所选择分析的基因座对该系统在法医学应用中的分辨能力至关重要,实验结果表明该体系在案件检验及数据库建设中具有良好的应用价值。Objective To investigate the mutation rates and genetic polymorphisms of 26 Y-STR loci to evaluate its forensic application value.Methods The DNATyperTM Y29 kit was deployed to analyzed the mutation rates of 26 Y-STR loci by 575 father-son pairs from Mongol ethnic group,and showed the results of Y-chromosomal typing of 777 unrelated male individuals from three populations(Jiangxi,Fujian,and Heilongiang province)in China.These results were used for evaluating the forensic applicability of the DNATyperTM Y29 kit.Results Totally 52 mutation loci were found in 46 fatherson pairs among 575 samples from Mongol ethnic group,and the mean mutation rate of these loci was 1.93×10^(-3).There were 235 unique haplotypes from Mongol ethnic group of Hei Longjiang(236 male samples),320 unique haplotypes from Han ethnic group of Fujian(323 male samples),and 217 unique haplotypes from Han ethnic group of Jiangxi province(218 male samples).Accordingly,the HD was 0.999964,0.999942 and 0.999958,respectively.Conclusion The loci of high mutation rate is effective for the individual identification but should be cautious when the Y-STR database searching.An upgrade of analyzed markers resulted in increased discrimination capacity that is crucial for forensic trace analysis.Our results suggested that DNATyperTM Y29 system is a useful tool for identification and database construction.

关 键 词：法医遗传 Y-STR 突变 法医学应用 

分 类 号：DF795.1[医药卫生—法医学]