法医学杂志

法医学杂志 ›› 2021, Vol. 37 ›› Issue (1): 21-25.DOI: 10.12116/j.issn.1004-5619.2019.590905

• 论 著 • 上一篇    下一篇

应用HID Ion GeneStudioTM S5测序系统探讨毛干样本线粒体DNA异质性

程凤1 ，张庆霞2 ，陈成建2 ，李万婷1 ，张家榕1 ，张更谦1 ，严江伟1   

  1. 1. 山西医科大学法医学院，山西 太原 030001；2. 北京市公安司法鉴定中心，北京 100192
  • 收稿日期:2019-09-25 发布日期:2021-02-25 出版日期:2021-02-28
  • 通讯作者: 严江伟，男，博士，教授，主任法医师，主要从事法医学基因组研究；E-mail：yanjw@sxmu.edu.cn
  • 作者简介:程凤（1994—），女，满族，博士研究生，主要从事法医学基因组研究；E-mail：dr20190071055@b.sxmu.edu.cn
  • 基金资助:
    国家自然科学基金资助项目（82030058）；中国科学院重点部署资助项目（KGFZD135-18-031）

Mitochondrial DNA Heteroplasmy of Hair Shaft Using HID Ion GeneStudioTM S5 Sequencing System

CHENG Feng1 , ZHANG Qing-xia2 , CHEN Cheng-jian2 , LI Wan-ting1 , ZHANG Jia-rong1 , ZHANG Gengqian1 , YAN Jiang-wei1   

  1. 1. College of Forensic Medicine, Shanxi Medical University, Taiyuan 030001, China; 2. Forensic Central of Beijing Public Security Bureau, Beijing 100192, China
  • Received:2019-09-25 Online:2021-02-25 Published:2021-02-28

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摘要： 目的 应用HID Ion GeneStudioTM S5测序系统对毛干样本线粒体全基因组分型结果的异质性进行 探讨。 方法 采集8名无关个体的口腔拭子、血液及同一个体不同部位毛干样本，使用Precision ID mtDNA Whole Genome Panel 对线粒体全基因组进行扩增，应用HID Ion GeneStudioTM S5测序系统对线粒体全基 因组进行分析检测。 结果 2名个体的颞部毛干样本线粒体DNA出现异质性，其余6名无关个体的口腔拭 子、血液及不同部位毛干样本的线粒体全基因组分型结果均一致。8 名无关个体共观察到 119 个碱基变 异，个体的变异位点数目分别为29、40、38、35、13、36、40和35。 结论 应用HID Ion GeneStudioTM S5测序 系统可全面了解序列多态性。

关键词: 法医遗传学；DNA, 线粒体；全基因组；HID Ion GeneStudioTM S5测序系统；毛干

Abstract: Objective To study the heteroplasmy of the whole mitochondrial genome genotyping result of hair shaft samples using HID Ion GeneStudioTM S5 Sequencing System. Methods The buccal swabs and blood of 8 unrelated individuals, and hair shaft samples from different parts of the same individual were collected. Amplification of whole mitochondrial genome was performed using Precision ID mtDNA Whole Genome Panel. Analysis and detection of whole mitochondrial genome were carried out using the HID Ion GeneStudioTM S5 Sequencing System. Results The mitochondrial DNA sequences in temporal hair shaft samples from 2 individuals showed heteroplasmy, while whole mitochondrial genome genotyping results of buccal swabs, blood, and hair samples from the other 6 unrelated individuals were consistent. A total of 119 base variations were observed from the 8 unrelated individuals. The numbers of variable sites of the individuals were 29, 40, 38, 35, 13, 36, 40 and 35, respectively. Conclusion Sequence polymorphism can be fully understood using HID Ion GeneStudioTM S5 Sequencing system.

Key words: forensic genetics, DNA, mitochondrial, whole genome, HID Ion GeneStudioTM S5 Sequencing System, hair shaft

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