法医学常用15个STR基因座的突变分析  

Mutations of 15 Short Tandem Repeat Loci for forensic application

作　　者：邱平明[1] 陈玲[1] 余嘉欣 陆慧洁 牛牧斐 刘超[1,2] 

机构地区：[1]南方医科大学基础医学院法医学系,广东广州510515 [2]广州市刑事科学技术研究所,广东广州510030

出　　处：《分子诊断与治疗杂志》2016年第4期222-226,共5页Journal of Molecular Diagnostics and Therapy

基　　金：广东省医学科学技术研究基金(A2015043)

摘　　要：目的观察Sinofiler系统15个短串联重复序列(short tandem repeat,STR)基因座的突变现象和特点。方法选择Sinofiler试剂盒检测的案件8261例,筛选该试剂盒15个STR基因座的突变事件,判断突变等位基因的来源,统计各基因座的突变率,分析突变的特点。结果在15个基因座上发现175个突变事件,167例(95.43%)为一步突变,5例(2.86%)为二步突变,2例(1.14%)为三步突变,1例(0.57%)为五步突变。平均突变率为1.30×10^(-3)(95%CI 1.12×10^(-3)~1.51×10^(-3)),各基因座的突变率介于0.45×10^(-3)~2.56×10^(-3)。父、母来源突变比例为13.33∶1。增加重复单位和减少重复单位的突变事件比值为1.10∶1。15个基因座的突变率与杂合度之间没有统计学上的相关性。结论获得的15个STR基因座突变资料在亲子鉴定中有重要的应用价值。Objective To analyze the characteristics of 15 STR loci mutations and their roles in paternity tests. Methods 8 261 confirmed parentage cases detected by Sinofiler System were analyzed. The mutation events in 15 STR loci of Sinofiler System were screened, and the sources of mutant alleles were analyzed. Finally, the mutation rates of STR loci were calculated and the features of these mutations were examined. Results 175 mutation events were observed in 15 STR loci. Among them, 167（95.43%） were one-step, 5（2.86%） were two-step, one（1.14%） was three-step and one（0.57%） was five-step. The overall mutation rate was 1.30×10-（395%CI 1.12×10^（-3）~1.51×10^（-3））, and the locus-specific mutation rates ranged from0.45×10^（-3）~2.56×10^（-3）. The ratio of paternal versus maternal mutation was 13.33：1.The ratio of repeat gains versus repeat losses was 1.10：1. No statistical correlation between mutation rate and heterozygosity at 15 STR loci was detected. Conclusion Mutations in the 15 STR loci can play a valuable role in paternity tests.

关 键 词：法医物证学 短串联重复序列(STR) 突变 

分 类 号：D919[医药卫生—法医学]