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15个STR基因座的突变观察和分析
引用本文:郝宏蕾,吴微微,任文彦,苏艳佳,吕德坚.15个STR基因座的突变观察和分析[J].刑事技术,2013(1):10-12.
作者姓名:郝宏蕾  吴微微  任文彦  苏艳佳  吕德坚
作者单位:1. 浙江省公安厅刑侦总队,杭州,310009
2. 中山大学医学院法医学系,广州,510089
摘    要:目的调查15个STR基因座的突变情况。方法采集817例亲子鉴定的2722份血样本,采用Identi—filerTM系统扩增15个STR基因座分型,共有33060次等位基因传递,统计各基因座发生突变的频率。结果在15个基因座中发现涉及11个基因座共25次突变,平均突变率为0.8×101(95%C10.5—1.1×10-3),其中一步突变20次,两步突变3次,三步突变2次;父、母来源突变比率为2.6:1,不能确定来源突变7次。结论STR基因座等位基因在IdentifilerTM复合扩增系统突变现象较为常见,亲子鉴定时应引起注意。

关 键 词:STR基因座  突变  亲子鉴定

Observation and analysis of mutation of 15 short tandem repeat loci
Institution:HAO Hong-lei,WU Wei-wei,REN Wen-yan,et al.(Criminal Investigation Department,Zhejiang Province,Hangzhou 310009,China)
Abstract:Objective The aim of this study was to investigate mutation of 15 STR loci. Methods 2722 bloodstain sam- ples collected from 817 parentage confirmed cases were detected by using IdentifilerTM system and the mutation rates of STR loci were calculated. Results With 33060 allele transfers,25 mutations were identified at 11 loci. The average mutation rates is 0. 8× 10-3 per locus(95%CI 0.5--1.1 × 10-3). 20 mutation events were one-step mutation, 3 events was two-step mutation, 2 events was three-step mutation; The ratio of paternal versus maternal mutations was 2. 6:1, and 7 indistinguishable mutations were ob served. Conclusion STR mutation were common in paternity testing, and we should attach importance to it.
Keywords:forensic biological science  short tandem repeat(STR)  paternity testing  mutation
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