X染色体上16个STR基因座的分型检测和多态性分析  

Typing and Polymorphism Analysis of 16 STR Loci on X Chromosome

作　　者：李莉[1] 赵书民[1] 张素华[1] 李成涛[1] 柳燕[1] 林源[1] 刘俊宏[1,2] 

机构地区：[1]司法部司法鉴定科学技术研究所上海市法医学重点实验室,上海200063 [2]华东政法大学,上海200042

出　　处：《法医学杂志》2012年第1期36-40,43,共6页Journal of Forensic Medicine

基　　金：上海市科学技术委员会科研计划项目(08251203200);上海市自然科学基金项目(08ZR1419800);上海市法医学重点实验室资助项目(11DZ2271500)

摘　　要：目的研制16个X-STR基因座的多重PCR检测试剂盒,调查各个基因座的遗传多态性。方法从X染色体上选择GATA165B12、DXS101、GATA172D05、HPRTB、DXS981、DXS8378、DXS6795、GATA31E08、DXS6809、DXS6803、DXS9902、DXS6807、DXS7423、DXS7133、DXS6810和DXS7132共16个STR基因座,用Primer Premier 5.0设计多重PCR引物,用4种荧光素(FAM、HEX、TAMRA、ROX)进行标记,建立多重PCR体系,对中国汉族进行群体遗传学调查。结果成功地研制出X-STR基因座的多重PCR检测试剂盒IDtyperX-16。所检测的16个X-STR基因座中,DXS7133和DXS7423具有中度多态性,其余14个基因座均具有高度多态性(PIC>0.5,H>0.5),这16个X-STR基因座在女性群体的累积个人识别率为0.999 999 999 999 97,在男性群体的累积个人识别率为0.999 999 993,在三联体中的累积非父排除率为0.999 999 93,在二联体中的累积非父排除率为0.999 990。结论 IDtyper X-16试剂盒达到了法医物证学应用的要求,可为疑难复杂亲权案件的鉴定提供有效的手段。Objective To develop a PCR-based X-STR kit for typing of 16 X-STR loci and investigate the polymorphisms of the X-STR markers.Methods Sixteen STR loci（GATA165B12,DXS101,GATA172D05,HPRTB,DXS981,DXS8378,DXS6795,GATA31E08,DXS6809,DXS6803,DXS9902,DXS6807,DXS7423,DXS7133,DXS6810 and DXS7132） located on X chromosome were selected.The primers for multiplex PCR were designed by Primer Premier 5.0 software and labeled by four fluorescences（FAM,HEX,TAMRA and ROX）.The developed multiplex PCR system was used for investigating the polymorphisms of the X-STR markers in Han populations.Results The 16-plex amplification system named IDtyper X-16 was successfully developed and validated.Among the 16 X-STR loci,DXS7133 and DXS7423 were found to be moderately polymorphic and the other 14 X-STR markers were highly polymorphic（PIC0.5,H0.5）.The cumulative discrimination power in females and in males were 0.999 999 999 999 97 and 0.999 999 993 respectively in Han population.The combined power of exclusion in trios and in duos were 0.999 999 93 and 0.999 990,respectively.Conclusion The IDtyper X-16 kit is highly valuable in forensic science and is suitable for paternity testing in disputed cases.

关 键 词：法医遗传学 X染色体 多态现象 遗传 STR 

分 类 号：DF795.2[医药卫生—法医学]