法医学杂志

法医学杂志 ›› 2018, Vol. 34 ›› Issue (3): 236-241.DOI: 10.12116/j.issn.1004-5619.2018.03.004

• 论著 • 上一篇    下一篇

24个Y-STR基因座的法医学应用评估

李  敏1，2，黄  磊3，王新杰4，陈玉玲2，5，盛  翔2，6，李亚男2，7，包  云2，7，姜  磊2，朱如心2，徐倩南1，2，张家硕2，6，李成涛1，2，边英男1，2   

  1. 1. 温州医科大学基础医学院法医学系，浙江 温州 325235； 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. 山东省公安厅，山东 济南 250001； 4. 潍坊市公安局，山东 潍坊 261061； 5. 华东理工大学生物工程学院 生物反应器工程国家重点实验室，上海 200237； 6. 苏州大学医学部法医学系，江苏 苏州 215123； 7. 内蒙古医科大学法医学教研室，内蒙古 呼和浩特 010030
  • 发布日期:2018-06-25 出版日期:2018-06-28
  • 通讯作者: 边英男，男，助理研究员，博士，主要从事法医遗传学研究；E-mail：bianyingnan@yeah.net
  • 作者简介:李敏（1992—），女，硕士研究生，主要从事法医遗传学研究；E-mail：571265694@qq.com 黄磊（1972—），男，主任法医师，硕士，主要从事DNA检验鉴定；E-mail：sd.huanglei@163.com
  • 基金资助:
    上海市法医学重点实验室开放基金资助项目（KF1709）；上海市司法鉴定专业技术服务平台资助项目（16DZ2290900）；上海市科技攻关资助项目（16DZ120500，18DZ1200300）

Assessment on Application of 24 Y-STR Loci in Forensic Science

LI Min1,2, HUANG Lei3, WANG Xin-jie4, CHEN Yu-ling2,5, SHENG Xiang2,6, LI Ya-nan2,7, BAO Yun2,7, JIANG Lei2, ZHU Ru-xin2, XU Qian-nan1,2, ZHANG Jia-shuo2,6, LI Cheng-tao1,2, BIAN Ying-nan1,2   

  1. 1. Department of Forensic Medicine, School of Basic Medical Sciences, Wenzhou Medical University, Wenzhou 325035, China; 2. Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Shanghai 200063, China; 3. Shandong Provincial Public Security Department, Jinan 250001, China; 4. Weifang Public Security Bureau, Weifang 261061, China; 5. State Key Laboratory of Bioreactor Engineering, College of Biology Engineering, East China University of Science and Technology, Shanghai 200237, China; 6. Department of Forensic Medicine, Medical College of Soochow University, Suzhou 215123, China; 7. Department of Forensic Medicine, Inner Mongolia Medical University, Hohhot 010030, China
  • Online:2018-06-25 Published:2018-06-28

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摘要： 目的 甄选单倍型识别力较强、突变率适当和兼容性较好的Y-STR标记系统，并对其进行法医学应用评估。 方法 采用自建荧光标记复合扩增体系对甄选得到的24个Y-STR基因座进行检验，并通过在山东济南采集的139对父-子样本对其进行法医学评估。 结果 24个基因座在139个标记为“父”的无关个体样本中共检测出176个等位基因，基因多样性（gene diversity，GD）分布在0.083 7（DYS645）～0.966 9（DYS385a/b）。通过24个Y-STR基因座在139名标记为“父”的山东汉族男性无关个体中共检测出139种单倍型，无共享单倍型现象出现。总的单倍型多样性（haplotype diversity，HD）值为1，识别能力（discriminative capacity，DC）值为1。24个Y-STR基因座，在139对父-子间共观察到5次一步突变，平均突变率为0.001 5，95%置信区间为（0.000 5，0.003 5）。 结论 24个Y-STR基因座组成的位点系统在山东济南人群中表现出较强个体识别能力和较低突变率，具有较好的法医学应用价值。

关键词: 法医遗传学, Y-STR, 单倍型, 突变率, 山东

Abstract: Objective To select a Y-STR marker system with strong haplotype identification ability, appropriate mutation rate and high compatibility and to assess its forensic application. Methods The 24 Y-STR loci were tested by self-built fluorescent multiplex system, and the forensic assessment was conducted by 139 pairs of father-son samples collected in Jinan, Shandong province. Results Totally 176 alleles were identified among the 24 Y-STR loci in the sample of 139 unrelated individuals labeled with father, and the gene diversity （GD） distributed between 0.083 7 （DYS645）-0.966 9 （DYS385a/b）. According to the 24 Y-STR loci, 139 different haplotypes were detected from 139 unrelated male individuals labeled with father in Han population of Shandong province and with no shared haplotype observed. The overall haplotype diversity （HD） was 1 and the discrimination capacity （DC） was 1. A total of 5 one-step mutations events were observed among the 24 Y-STR loci in 139 pairs of father-son. The average mutation rate was 0.001 5 [95% CI （0.000 5, 0.003 5）]. Conclusion The system of 24 Y-STR loci shows a strong individual recognition ability and low mutation rate in the population in Jinan, Shandong province, and it has good application value in forensic science.

Key words: forensic genetics, Y-STR, haplotype, mutation rate, Shandong