法医学杂志

法医学杂志 ›› 2018, Vol. 34 ›› Issue (2): 120-125.DOI: 10.3969/j.issn.1004-5619.2018.02.003

• 论著 • 上一篇    下一篇

SiFaSTRTM 23plex DNA身份鉴定系统在华东汉族人群中的法医学应用

包  云1，2，盛  翔2，3，张家硕2，3，李  敏2，4，李亚男1，2，徐倩南2，4，李成涛2，陈丽琴1   

  1. 1. 内蒙古医科大学基础医学院，内蒙古 呼和浩特 010030； 2． 司法鉴定科学研究院 上海市法医学重点实验室 上海市司法鉴定专业技术服务平台，上海 200063； 3. 苏州大学医学部法医学系，江苏 苏州 215123； 4. 温州医科大学法医学系，浙江 温州 325035
  • 发布日期:2018-04-25 出版日期:2018-04-28
  • 通讯作者: 陈丽琴，女，教授，硕士研究生导师，主要从事法医遗传学和法医病理学研究；E-mail：lqchenyj@163.com 李成涛，男，研究员，博士研究生导师，主要从事法医遗传学研究；E-mail：lichengtaohla@163.com
  • 作者简介:包云（1991—），女，硕士研究生，主要从事法医遗传学研究；E-mail：704990185@qq.com
  • 基金资助:
    “十三五”国家重点研发计划资助项目（2016YFC0800 703）；中央级科研院所公益资助项目（GY2017D-2）；上海市法医学重点实验室资助项目（17DZ2273200）；上海市司法鉴定专业技术服务平台资助项目（16DZ2290900）

Forensic Application of SiFaSTRTM 23plex DNA ID System in Han Population of Eastern China

BAO Yun1,2, SHENG Xiang2,3, ZHANG Jia-shuo2,3, LI Min2,4, LI Ya-nan1,2, XU Qian-nan2,4, LI Cheng-tao2, CHEN Li-qin1   

  1. 1. School of Basic Medicine, Inner Mongolia Medical University, Hohhot 010030, China; 2. Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Shanghai 200063, China; 3. Department of Forensic Medicine, Medical College of Soochow University, Suzhou 215123, China; 4. Department of Forensic Medicine, Wenzhou Medical University, Wenzhou 325035, China
  • Online:2018-04-25 Published:2018-04-28

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摘要： 目的 调查SiFaSTRTM 23plex DNA身份鉴定系统所包含的21个常染色体STR基因座及DYS391基因座在华东地区汉族人群中的遗传多态性，并评估其在法医学中的应用价值。 方法 采用SiFaSTRTM 23plex DNA身份鉴定系统对2 000名无关个体进行分型检测，统计分析上述STR基因座的群体遗传学参数。采用该试剂盒对支持亲子关系的3 198例案例进行检测，观察21个常染色体STR基因座的突变情况。 结果 21个常染色体STR基因座均符合Hardy-Weinberg平衡（P＞0.05），Ho为0.617 5~0.927 0，DP为0.796 4~0.986 9，PIC为0.561 1~0.912 3，CDP为0.999 999 999 999 999，CPEduo为0.999 997 431 701 961，CPEtrio为0.999 999 999 654 865。DYS391基因座共检出5个等位基因，等位基因频率在0.004 0~0.729 0，GD为0.418 9。除D13S317和D10S1248外，其余19个常染色体STR基因座共观察到76次突变，其中一步突变75次（98.68%），三步突变1次（1.32%），突变率为0.246 5×10-3~2.711 4×10-3，21个常染色体STR基因座平均突变率为0.892 1×10-3（95%置信区间为0.70×10-3~1.10×10-3）。33例三联体突变事件中，父、母源性突变比例为2.09∶1。 结论 SiFaSTRTM 23plex DNA身份鉴定系统在华东地区汉族人群中具有良好的遗传多态性，且各STR基因座突变率在可接受范围内，可用于法医学亲权鉴定和个体识别。

关键词: 法医遗传学；多态现象, 遗传；DNA突变分析；短串联重复序列；汉族；华东

Abstract: Objective To investigate the genetic polymorphism of 21 autosomal STR loci and DYS391 locus of SiFaSTRTM 23plex DNA ID system in Han population of eastern China and to evaluate its application value in forensic science. Methods Typing test of 2 000 unrelated individuals was performed using SiFaSTRTM 23plex DNA ID system. The population genetic parameters of STR loci were statistically analysed. A total of 3 198 parentage confirmed cases were detected with that system and the mutation conditions were observed in 21 autosomal STR loci. Results All the 21 autosomal STR loci showed no significant departure from Hardy-Weinberg equilibrium （P>0.05）. The Ho ranged from 0.617 5 to 0.927 0. The DP ranged from 0.796 4 to 0.986 9, as well as the PIC distributed from 0.561 1 to 0.912 3. The CDP was 0.999 999 999 999 999. The CPEduo was 0.999 997 431 701 961, while CPEtrio was 0.999 999 999 654 865. Five alleles were detected in DYS391 locus, with the allele frequency from 0.004 0 to 0.729 0, and GD was 0.418 9. Except D13S317 and D10S1248, seventy-six mutation events were observed at the rest nineteen autosomal STR loci. Among them, seventy-five （98.68%） were one step mutation, and only one （1.32%） was three steps mutation. The mutation rate ranged from 0.246 5×10-3 to 2.711 4×10-3, and the averaged mutation rate was 0.892 1×10-3 （95% CI： 0.70×10-3-1.10×10-3）. In 33 trio mutation cases, the proportion of the paternal mutation and the maternal mutation was 2.09∶1. Conclusion The involved STRs are highly polymorphic in Eastern Han population with acceptable mutation rates by the SiFaSTRTM 23plex DNA ID system, which is suitable for paternity testing and individual identification.

Key words: forensic genetics, polymorphism, genetic, DNA mutational analysis, short tandem repeat, Han nationality, Eastern China