Advances in Gene Analysis of Mitochondrial Cytopathies
线粒体细胞病基因分析进展

摘要

线粒体细胞病在临床上是一种较为特殊的疾病，这一疾病的发生是由于呼吸链-氧化磷酸系统的一种出现缺陷，进而对患者有神经系统和肌肉组织产生损伤的一种疾病。本文中针对mtRNA的分子学特点作出了相应的探讨分析，针对线粒体细胞病的相关概念做出了研究，并针对mtRNA的单个突变热点基因以及检测方式进行了综述，旨在为临床医学中线粒体细胞病的后续诊疗工作开展提供帮助与参考。

Abstract

Mitochondrial cell disease is a relatively special clinical disease. The occurrence of this disease is due to a defect in the respiratory chain-oxidative phosphate system, which in turn causes damage to the nervous system and muscle tissue of the patient. . In this paper, the molecular characteristics of mtRNA are discussed and analyzed accordingly, the concept of mitochondrial cell disease is studied, and the single mutation hotspot gene and detection methods of mtRNA are reviewed, aiming to provide a basis for mitochondrial cell disease in clinical medicine. Provide help and reference for the follow-up diagnosis and treatment of the disease.