遗传 ›› 2013, Vol. 35 ›› Issue (12): 1368-1376.doi: 10.3724/SP.J.1005.2013.01368

• 研究报告 • 上一篇    下一篇

北京汉族群体30个常染色体InDel位点群体遗传学及法医学研究

百茹峰, 姜立喆, 张中, 石美森   

  1. 中国政法大学, 证据科学教育部重点实验室, 北京 100040
  • 收稿日期:2013-07-16 修回日期:2013-09-27 出版日期:2013-12-20 发布日期:2013-11-25
  • 通讯作者: 石美森, 副教授, 研究方向:法医物证学、群体遗传学。 E-mail:shimeisen2000@163.com
  • 作者简介:百茹峰, 副教授, 研究方向:群体遗传学、法医损伤学。E-mail: brf1000cn@gmail.com
  • 基金资助:

    教育部新世纪优秀人才项目(编号:NCET-10-0773), 国家自然科学基金面上项目(编号:81172902), 中组部北京市优秀人才项目(编号:2012D002023000002)和中国政法大学青年教师学术创新团队项目资助

Genetic polymorphism and forensic application of 30 InDel loci of Han population in Beijing

BAI Ru-Feng, JIANG Li-Zhe, ZHANG Zhong, SHI Mei-Sen   

  1. Key Laboratory of Evidence Science, Ministry of Education, China University of Political Science and Law, Beijing 100040, China
  • Received:2013-07-16 Revised:2013-09-27 Online:2013-12-20 Published:2013-11-25

摘要:

为了调查30个 InDel 位点在中国北京汉族人群中的群体遗传学数据, 并评估其法医学应用价值, 文章采集210名北京汉族无关健康个体外周血样, 提取样本DNA, 采用Investigator ® DIPplex 体系对HLD77等30个InDel 位点进行复合扩增, ABI3130 XL 遗传分析仪进行基因分型, 计算常用法医学参数, 分析群体遗传差异。经 Bonferroni 校正, 30个InDel 位点不存在连锁不平衡现象, 基因型分布符合Hardy-Weinberg 平衡; 各位点DP值为0.2690~0.6330, 累积个体识别力(TDP)为0.999999999985; 三联体累积非父排除率(CPEtrio)为0.98771049, 二联体累积非父排除率(CPEduo)为0.94579456。32例 STR 基因座发生突变的家系样本调查证实上述 InDel 位点未发现突变。结果表明, Investigator® DIPplex 试剂盒中包含的30个InDel 位点在北京汉族群体中具有较好的遗传多态性, 在 STR 存在突变及微量DNA检材等特殊检案中可作为有效的补充检测体系。

关键词: 插入缺失多态性, Investigator® DIPplex, 基因多态性, 法医学

Abstract:

To study the genetic diversities of 30 insertion-deletion (InDel) polymorphisms loci of Han population in Beijing, and to evaluate their forensic application, 210 unrelated healthy individuals of Han population in Beijing were investigated to determine the distributions of allele frequencies by using Investigator® DIP system. The PCR products were detected with ABI 3130 XL Genetic Analyzer. Forensic parameters were calculated with relevant statistical analysis software. As a result, after the Bonferroni correction at a 95% significance level, there were no significant departures from Hardy-Weinberg equilibrium or significant linkage disequilibrium between the loci. The power of discrimination (DP) varies between 0.2690 (HLD118) and 0.6330 (HLD45), and the combined discrimination power (TDP) for the 30 InDel loci is 0.999999999985. The combined power of exclusion was 0.98771049 in trio cases (CPEtrio) and 0.94579456 in duo cases (CPEduo). The parentage testing of 32 cases revealed no mutations happened to 30 InDel loci. Multiplex detection of the 30 InDel loci revealed a highly polymorphic genetic distribution in Beijing Han population, which represents a complementary tool in human identification studies, especially in challenging DNA cases.

Key words: insertion and deletion polymorphisms(InDel), Investigator®, DIPplex, genetic diversity, forensic science