法医学杂志

法医学杂志 ›› 2018, Vol. 34 ›› Issue (2): 126-131,137.DOI: 10.3969/j.issn.1004-5619.2018.02.004

• 论著 • 上一篇    下一篇

43个SNP遗传标记复合检验体系的建立及其法医学应用

李亚男1，2，李  敏2，3，姜  磊2，栾晓辉4，梁  娜4，徐倩男2，3，张家硕2，5，唐铭池6，边英男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. 温州医科大学法医学系，浙江 温州325035；4. 基纳生物技术（上海）有限公司，上海 200032；5. 苏州大学医学部法医学系，江苏 苏州215123；6. 哈尔滨市公安局道里分局刑事技术大队，黑龙江 哈尔滨150070）
  • 发布日期:2018-04-25 出版日期:2018-04-28
  • 通讯作者: 边英男，男，副主任法医师，主要从事法医遗传学研究；E-mail：bianyn@ssfjd.cn 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
  • 作者简介:李亚男（1992—），女，硕士研究生，主要从事法医遗传学研究；E-mail：liyanan20620@163.com
  • 基金资助:
    “十三五”国家重点研发计划资助项目（2016YFC0800 703）；国家自然科学基金资助项目（81601651，81625013）；上海市法医学重点实验室开放课题资助项目（KF1609，KF1709）；中央级科研院所公益资助项目（GY2016D-1，GY2018G-9）；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）

Establishment of 43-plex SNP Typing System and Its Forensic Application

LI Ya-nan1,2, LI Min2,3, JIANG Lei2, LUAN Xiao-hui4, LIANG Na4, XU Qian-nan2,3, ZHANG Jia-shuo2,5, TANG Ming-chi6, BIAN Ying-nan2, 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, Wenzhou Medical University, Wenzhou 325035,
    China; 4. Agena Bioscience （Shanghai）Co., Ltd., Shanghai 200032, China; 5. Department of Forensic Medicine, Medical College of Soochow University, Suzhou 215123, China; 6. Criminal Technology Branch, Daoli Branch of Harbin Public Security Bureau, Harbin 150070, China
  • Online:2018-04-25 Published:2018-04-28
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摘要： 目的 对43个SNP遗传标记的复合检验体系进行法医学应用评估。 方法 采用MALDI-TOF-MS技术检验华东地区123名汉族无关个体在43个SNP位点的分型，并根据43个SNP复合检验体系的群体遗传学参数评估其应用价值。 结果 123名个体在43个SNP位点上均符合Hardy-Weinberg平衡（P>0.05）。除rs1355366、rs2270529、rs10776839和rs938283外，其余39个位点的最小等位基因频率（minor allele frequency，MAF）均大于0.25，其中，24个位点的MAF值在0.4～0.5，3个位点的MAF值接近0.4。43个SNP位点的DP为0.290 1~0.654 4，CDP为1-9.8×10-11，PIC为0.170 8~0.500 0，Ho为0.155 7～0.593 5，PEtrio为0.085 4～0.250 0，PEduo为0.014 6～0.125 0，CPEtrio为0.999 986，CPEduo为0.992 436 1。 结论 本研究的43个SNP复合检验体系具有较高的遗传多态性，既可以作为传统STR遗传标记的有效补充和验证，也可以与其他商品化试剂盒配合使用，用于法医遗传学亲权鉴定及个体识别。

 

Abstract:

Objective To evaluate the application of 43 -plex SNP typing system in forensic science. Methods The typing of 43 SNP loci in 123 unrelated Han individuals from East China was detected by MALDI-TOF-MS. The application value of 43-plex SNP typing system was assessed according to the forensic parameters of population genetics. Results All the 43 SNP loci of 123 individuals showed no significant departure from Hardy-Weinberg equilibrium （P>0.05）. Excepted rs1355366, rs2270529, rs10776839 and rs938283, there were 39 SNP loci had minor allele frequencies （MAF）, which were greater than 0.25. Among the 25 loci MAFs, 24 ranged from 0.4 to 0.5, while 3 were close to 0.4. The DP, CDP, PIC, Ho, PEtrio and PEduo of the 43 SNP loci were 0.290 1-0.654 4, 1-9.8×10-11, 0.170 8-0.500 0, 0.155 7-0.593 5, 0.085 4-0.250 0 and 0.014 6-0.125 0, respectively. The CPEtrio and CPEduo were 0.999 986 and 0.992 436 1,
respectively. Conclusion The 43-plex SNP typing system in present study shows a high polymorphism, which can be an effective supplement and verification for traditional STR genetic markers. It also can be used with other commercial kits for the forensic paternity testing and individual identification.

Key words: forensic genetics, polymorphism, genetic, matrix -assisted laser desorption -ionization, mass spectrometry, single nucleotide polymorphism, Han nationality, Eastern China

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