线粒体DNA的异质性

哺乳动物线粒体DNA（mitochondrial DNA, mtDNA）位于线粒体.当细胞中mtDNA发生突变时,就会出现野生型与突变型mtDNA的共存.这种情况被称为mtDNA异质性.从mtDNA异质性的形成到在表型上引起相应的病变是一个复杂的过程.mtDNA异质性是如何形成和其在特异组织的增殖复制,mtDNA异质性的变化对个体的影响,如何提高mtDNA突变负荷检测的精度和灵敏度都是近些年的研究热点.本文对mtDNA异质性的检测、遗传、组织特异性以及其相关的疾病等方面进行了阐述.

Mitochondrial DNA Heteroplasmy

Mammal’s mitochondrial DNAs(mtDNA) lie in the mitochondrial. When mtDNA mutations occur, the wild-type and mutant mtDNAs will be co-existent. This is called mtDNA heteroplasmy. It is a complex process from mtDNA heteroplasmy formation to the corresponding lesion of phenotype. The formation of mtDNA heteroplasmy, proliferation and replication in the specific tissue, change and effect on the individual, and detection accuracy and sensitivity of mtDNA mutation load were all research hotspots in recent years. The detection, heredity, tissue specificity, relevant diseases and some other aspects of mtDNA heteroplasmy were reviewed in this paper.