法医学杂志

法医学杂志 ›› 2021, Vol. 37 ›› Issue (3): 382-387，395.DOI: 10.12116/j.issn.1004-5619.2020.500102

• 技术与应用 • 上一篇    下一篇

SeqType® P52人类祖先识别SNP检测试剂盒性能验证

王颖希1， 马原2， 李甫3， 焦章平1   

  1. 1. 北京市公安司法鉴定中心，北京 100192； 2. 北京市朝阳区公安司法鉴定中心，北京 100123； 3. 北京市东城区公安司法鉴定中心，北京 100061
  • 发布日期:2021-06-25 出版日期:2021-06-28
  • 通讯作者: 焦章平，男，主任法医师，主要从事法医物证学检验鉴定；E-mail：jiaozhangpingbj@163.com
  • 作者简介:王颖希（1986—），女，硕士研究生，主要从事法医物证学检验鉴定；E-mail：15101145899@163.com
  • 基金资助:
    公安部应用创新资助项目（2017YYCXBJSJ037）

Performance Verification of SeqType® P52 Human Ancestry Identification SNP Detection Kit

WANG Ying-xi1, MA Yuan2, LI Fu3, JIAO Zhang-ping1   

  1. 1. Beijing Public Security Center for Forensic Science Service, Beijing 100192, China; 2. Chaoyang Forensic Science Service of Beijing Public Security Bureau, Beijing 100123, China; 3. Dongcheng Forensic Science Service of Beijing Public Security Bureau, Beijing 100061, China
  • Online:2021-06-25 Published:2021-06-28

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摘要： 目的 评估基于高通量测序平台研发的SeqType􀳏 P52人类祖先识别SNP检测试剂盒对中国5个民族的区分效能。 方法 基于高通量测序平台检测SeqType􀳏 P52人类祖先识别SNP检测试剂盒，对来自中国汉族、藏族、蒙古族、维吾尔族、彝族共计350份样本进行检测和族群聚类分析。 结果 单个样本单个位点有效测序深度≥720×，平均检出率96%。藏族、蒙古族、维吾尔族、彝族4个民族和汉族的群体间等位基因频率差均值分别为0.20、0.05、0.24和0.11。在Structure 2.3.4 K=5模式下可以检测到汉族、藏族和维吾尔族比较独立的祖先成分，这与主成分分析（pricipal component analysis，PCA）结果相一致。对于彝族，其2/3拥有相对独立的与藏族人群接近的祖先成分，1/3成分和维吾尔族相似。蒙古族则拥有与汉族人群相似的祖先来源成分。 结论 本研究筛选并建立的52个祖先信息SNP位点复合检测体系能够有效地实现汉族、藏族、维吾尔族人群的成分构成和个体遗传成分的分析，对汉族、蒙古族、彝族3个民族区分能力还有待提高。SeqType􀳏 P52人类祖先识别SNP检测试剂盒可以用于法医DNA部分案件中个体祖先的来源推断。

关键词: 法医遗传学, 单核苷酸多态性, 高通量测序, 祖先信息标记

Abstract: Objective To evaluate the discrimination efficiency of the SeqType􀳏 P52 Human Ancestry Identification SNP Detection Kit based on a high-throughput sequencing platform in five Chinese ethnic groups. Methods Using the SeqType􀳏 P52 Human Ancestry Identification SNP Detection Kit based on a high-throughput sequencing platform, a total of 350 samples from Han, Tibetan, Mongolian, Uygur, and Yi populations in China were detected and population cluster analysis was performed. Results The effective sequencing depth of a single site in a single sample was ≥720×, and the average report rate was 96%. The mean values of allele frequency differences between the Tibetan, Mongolian, Uygur, Yi and Han population were 0.20, 0.05, 0.24 and 0.11, respectively. Using Structure 2.3.4 software under K=5 mode, independent ancestral component in Han, Tibetan and Uygur could be detected, which was consistent with the result observed from the principal component analysis （PCA）. For the Yi population, two thirds of them had relatively independent ancestral component close to the Tibetan population and one third were similar to the Uygur population. The Mongolian population had similar ancestral origin component with Han population. Conclusion The composite detection system with 52 screened ancestry-informative SNP sites has been established in this study, which can effectively analyze the composition and individual genetic components of populations from Han, Tibetan and Uygur. The ability to discriminate among Han, Mongolian and Yi needs to be further improved. The SeqType􀳏 P52 Human Ancestry Identification SNP Detection Kit can be used to infer the origin of an individual’s ancestors in some forensic DNA cases.

Key words: forensic genetics, single nucleotide polymorphism, high-throughput sequencing, ancestry informative marker

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