法医学杂志

法医学杂志 ›› 2020, Vol. 36 ›› Issue (4): 531-537.DOI: 10.12116/j.issn.1004-5619.2020.04.019

• 技术与应用 • 上一篇    下一篇

47个常染色体InDel位点在中国5个民族中的遗传多态性及法医学应用

潘习勇1，2， 刘长晖3， 杜蔚安4， 陈玲5， 韩晓龙3， 杨幸怡3， 李越3， 刘超3   

  1. 1. 中山大学中山医学院法医学系，广东 广州 510080； 2. 广州市越秀区公安司法鉴定中心，广东 广州 510080； 3. 广州市刑事科学技术研究所，广东 广州 510030； 4. 中德美联生物技术有限公司，江苏 无锡 214174； 5. 南方医科大学法医学院，广东 广州 510515
  • 发布日期:2020-08-25 出版日期:2020-08-28
  • 通讯作者: 刘超，男，主任法医师，博士研究生导师，主要从事法医遗传学和法医物证学研究；E-mail：liuchaogzf@163.com
  • 作者简介:潘习勇（1984—），男，硕士研究生，主要从事法医遗传学和法医物证学研究；E-mail：panxy-fly@163.com
  • 基金资助:
    广州市科技计划资助项目（201605131210203，201707010486，2019030016）

Genetic Polymorphism and Forensic Application of 47 Autosomal InDel Loci in 5 Chinese Ethnic Groups

PAN Xi-yong1,2, LIU Chang-hui3, DU Wei-an4, CHEN Ling5, HAN Xiao-long3, YANG Xing-yi3, LI Yue3, LIU Chao3   

  1. 1. Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China; 2. Forensic Judicial Appraisal Center of Yuexiu Branch of Guangzhou Public Security Bureau, Guangzhou 510080, China; 3. Guangzhou Criminal Science and Technology Institute, Guangzhou 510030, China; 4. AGCU ScienTech Incorporation, Wuxi 214174, Jiangsu Province, China; 5. School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China
  • Online:2020-08-25 Published:2020-08-28

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摘要： 目的 调查AGCU InDel 50试剂盒中纳入的47个常染色体插入/缺失（insertion/deletion，InDel）多态性遗传标记在中国广东汉族、广西壮族、广西瑶族、广西京族和广西仫佬族中的群体遗传学数据，并评估其在法医学DNA鉴定中的应用。 方法 采用AGCU InDel 50试剂盒对上述5个民族共768名无关个体的血样进行复合扩增，通过3500xL基因分析仪进行基因分型，统计群体遗传学参数，并进行多态性分析。 结果 在这5个民族中，47个常染色体InDel位点相互间均不存在连锁不平衡。在广东汉族和广西壮族中，47个常染色体InDel位点的基因型频率分布均符合Hardy-Weinberg平衡；而在广西瑶族、广西京族、广西仫佬族中，除rs139934789位点外其余46个位点均符合Hardy-Weinberg平衡。群体间遗传差异分析结果显示1.12％的遗传变异是由民族差异造成。47个常染色体InDel位点在这5个民族中的累积个体识别率均高于0.999 999 999 999 999，累积非父排除率均小于0.999 9。2个Y-InDel位点在所有男性个体中均被检出，在女性个体中均未被检出。 结论 除rs139934789位点外，其余46个InDel位点在这5个中国民族群体中具有较好的遗传多态性，可用于法医学个体识别或作为亲权鉴定的有效补充。

关键词: 法医遗传学；多态现象, 遗传；插入/缺失；个体识别；广东；广西

Abstract: Objective To investigate the population genetic data of 47 autosomal insertion/deletion （InDel） polymorphism genetic markers involved in AGCU InDel 50 kit in Guangdong Han, Guangxi Zhuang, Guangxi Yao, Guangxi Jing, and Guangxi Mulam, and to evaluate their application in forensic DNA identification. Methods Multiplex amplification of the 768 unrelated individuals from the 5 ethnic groups mentioned above was performed with the AGCU InDel 50 kit. Genotyping was carried out by 3500xL gene analyzer, population genetic parameters were gathered and polymorphism analysis was performed. Results No linkage disequilibrium was found among 47 autosomal InDel loci in the 5 ethnic groups. The distribution of genotype frequency of 47 autosomal InDel loci confirmed to the Hardy-Weinberg equilibrium in Guangdong Han and Guangxi Zhuang. Except for rs139934789, the other 46 loci confirmed to the Hardy-Weinberg equilibrium in Guangxi Yao, Guangxi Jing, and Guangxi Mulam. The results of genetic variation analysis among the populations showed that 1.12% of genetic variation was caused by ethnic group differences. The cumulative discrimination power of 47 autosomal InDel loci for the 5 ethnic groups were all above 0.999 999 999 999 999. The cumulative probability of exclusion for each ethnic group was less than 0.999 9. The two Y-InDels were identified in all male individuals and were absent in all female individuals. Conclusion Except for rs139934789, the other 46 InDel loci have a relatively good genetic polymorphism in the 5 Chinese ethnic groups, and can be used for forensic individual identification and as effective supplements for paternity testing.

Key words: forensic genetics, polymorphism, genetic, insertion/deletion, individual identification, Guangdong, Guangxi