人类线粒体DNA异质性研究进展及其法医学应用

Proceedings of Human Mitochondrial DNA Heteroplasmy and its Applications to Forensic Medicine

线粒体DNA(mitochondrial DNA mtDNA)的异质性自从被发现以来,一直被遗传学、进化学、发育遗传学以及法医遗传学、分子生物学领域所重视。由于线粒体异质性的存在,使得很多涉及疾病、进化、系统发育线粒体基因组与核基因组的相互作用关系、线粒体DNA复制机制以及法医学运用线粒体DNA进行实际案件评估的问题变得复杂化。此外线粒体DNA异质性的发生原因以及对线粒体异质性的检测方法标准化问题还没有一个统一的答案。针对线粒体DNA异质性带来的种种问题,近年来国内外取得了不少研究进展。

The phenomenon of mitochondrial DNA （mtDNA） heteroplasmy has been greatly regarded in a variety of research fields including genetics, evolution, developmental genetics, forensic genetics and molecular biology. Because of the presence of mtDNA heteroplasmy and therefore a need to examine both the mitochondrial genome and the nuclear genome, studies of disease, evolution and phylogenesis are complicated. In addition, the mechanism of mtDNA replication and the application of mtDNA analysis to forensic practice are also significant developments in this type of research. Although there is no agreement about the mechanism for mtDNA heteroplasmy formation or for the standard method of how to determine mtDNA heteroplasmy, much progress has been made and this paper provides a current view on this research topic.