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

F Cheng; Q X Zhang; C J Chen; W T Li; J R Zhang; G Q Zhang; J W Yan

doi:10.12116/j.issn.1004-5619.2019.590905

Mitochondrial DNA Heteroplasmy of Hair Shaft Using HID Ion GeneStudio^TM S5 Sequencing System

Fa Yi Xue Za Zhi. 2021 Feb;37(1):21-25. doi: 10.12116/j.issn.1004-5619.2019.590905.

[Article in English, Chinese]

Authors

F Cheng¹, Q X Zhang², C J Chen², W T Li¹, J R Zhang¹, G Q Zhang¹, J W Yan¹

Affiliations

¹ College of Forensic Medicine, Shanxi Medical University, Taiyuan 030001, China.
² Forensic Central of Beijing Public Security Bureau, Beijing 100192, China.

PMID: 33780180
DOI: 10.12116/j.issn.1004-5619.2019.590905

Abstract
in English, Chinese

Objective To study the heteroplasmy of the whole mitochondrial genome genotyping result of hair shaft samples using HID Ion GeneStudio^TM 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 GeneStudio^TM 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 GeneStudio^TM S5 Sequencing system.

题目: 应用HID Ion GeneStudio^TM S5测序系统探讨毛干样本线粒体DNA异质性.

摘要: 目的应用HID Ion GeneStudio^TM 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 GeneStudio^TM 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 GeneStudio^TM 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 GeneStudio^TM S5测序系统；毛干.

Keywords: forensic genetics; DNA, mitochondrial; whole genome; HID Ion GeneStudioTM S5 Sequencing System; hair shaft.

MeSH terms

DNA, Mitochondrial* / genetics
Genome, Mitochondrial* / genetics
Heteroplasmy
High-Throughput Nucleotide Sequencing
Humans
Sequence Analysis, DNA

Substances

DNA, Mitochondrial

Abstract in English, Chinese

MeSH terms

Substances

Abstract
in English, Chinese