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

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

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。

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.