线粒体全基因组测序在法医学中的应用

摘要

线粒体 DNA 检测是法医 DNA 检验的重要手段之一。随着分子生物学和计算机技术的发展，二代测序技术的出现，使得线粒体 DNA 检测从传统的部分测序进入到全基因组测序时代。相对于部分测序，线粒体全基因组测序能够提供更全面的序列信息，提高线粒体 DNA 检测的识别率；同时也能够通过对全基因组信息的深入分析，获得样本来源信息。本文介绍了经典以及新出现的线粒体 DNA 测序策略，简述了各种测序策略的优缺点，在此基础上重点介绍了线粒体全基因组测序在法医遗传学、线粒体相关疾病、衰老机制等方面的研究和应用，最后探讨了线粒体全基因组序列分析在法医遗传学实践中应用的可能性以及可能面临的一些问题。%Compared to nuclear DNA, mitochondrial DNA (mtDNA) has many unique characters, and plays an important role in some specific cases. Traditional analysis of mitochondrial DNA is to partially sequence the high variant regions of mitochondrial genome. Presently, with the development of techniques in molecular biology and bioinformatics, the next generation sequencing (NGS) enables the mitochondrial DNA analysis into whole genome sequencing which provides more comprehensive information and raises the power of discrimination. Furthermore, whole genome analysis of mitochondrial DNA will give extra information assisting in sample source inferring, haplogroup detecting, diseases testing and among others. In this paper, we will review the classic and the newly emerging mitochondrial sequencing strategies including their advantages and disadvantages. Besides, we will give a brief introduction to the new applications of mitochondrial genome sequencing in forensic genetics, mitochondria diseases and aging research, and show the novel findings along with these practices. Finally, we will discuss the prospect of forensic application of mitochondrial whole genome sequencing, as well as the benefits and potential problems it may bring together.