Naini Ali, Gilkerson Robert, Shanske Sara, Pang Jiuhong
Laboratory of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, New York, NY, United States; Houston Merritt Clinical Research Center for Inherited Myopathies and Mitochondrial Diseases, Department of Neurology, Columbia University Medical Center, New York, NY, United States.
Departments of Biology and Clinical Laboratory Sciences, The University of Texas Rio Grande Valley, Edinburg, TX, United States.
Methods Cell Biol. 2020;155:383-400. doi: 10.1016/bs.mcb.2019.11.009. Epub 2019 Dec 2.
The maternally inherited mitochondrial DNA (mtDNA) is a circular 16,569bp double stranded DNA that encodes 37 genes, 24 of which (2 rRNAs and 22 tRNAs) are necessary for transcription and translation of 13 polypeptides that are all subunits of respiratory chain. Pathogenic mutations in mtDNA cause respiratory chain dysfunction, and are the underlying defect in an ever-increasing number of mtDNA-related encephalomyopathies with distinct phenotypes. In this chapter, we present an overview of mtDNA mutations and describe the molecular techniques currently employed in our laboratory to detect two types of mtDNA mutations: single-large-scale rearrangements and point mutations.
母系遗传的线粒体DNA（mtDNA）是一种环状的16,569碱基对双链DNA，编码37个基因，其中24个基因（2个核糖体RNA和22个转运RNA）对于13种多肽的转录和翻译是必需的，这13种多肽均为呼吸链的亚基。mtDNA中的致病性突变会导致呼吸链功能障碍，并且是越来越多具有不同表型的线粒体DNA相关脑肌病的潜在缺陷。在本章中，我们概述了mtDNA突变，并描述了我们实验室目前用于检测两种类型mtDNA突变的分子技术：大规模单重排和点突变。
