线粒体遗传病属于母系遗传病,是人类五大类遗传病之一。随着对线粒体结构与功能研究的深入,线粒体遗传病日益引起医学遗传学家的关注。目前已经完成对线粒体DNA(mtDNA)基因组测序,了解到其遗传特性存在着异质性和阈值效应。mtDNA的异常如转移RNA的突变、多肽突变、核糖体RNA突变等均可以导致疾病发生。常见线粒体遗传病有CPEO综合征、KSS综合征、MELAS综合征、MERRF综合征、LHON综合征等。对线粒体遗传病的诊断需要结合临床诊断和生化指标。 Mitochondrial genetic disease is maternal genetic disease, is one of the five major human genetic diseases. With the further study on the structure and function of mitochondria, mitochondrial genetic diseases are increasingly attracting the attention of medical geneticists. At present, sequencing of mitochondrial DNA (mtDNA) genome has been completed and it is known that there is heterogeneity and threshold effect in its genetic characteristics. Abnormalities in mtDNA, such as mutations in transferred RNA, mutations in peptides, and mutations in ribosomal RNA, can all cause disease. Common mitochondrial genetic disease CPEO syndrome, KSS syndrome, MELAS syndrome, MERRF syndrome, LHON syndrome. The diagnosis of mitochondrial genetic disease need to be combined with clinical diagnosis and biochemical indicators.