目的:人类的许多疾病与线粒体DNA的tRNA基因异质体点突变有关。笔者最近报道了一个预计耗时7 年的研究计划,在该计划中的116例儿童为未被确诊的脑肌肉病变患者,其中17例既有线粒体呼吸链缺陷,又有肌肉线粒体超微结构异常,提示可能在临床上出现线粒体性脑病。方法:通过构象敏感性凝胶电泳和序列分析法分析这17例儿童的全部线粒体DNA序列以确定 PURPOSE: Many human diseases are associated with point mutations in the heterozygote of tRNA genes in mitochondrial DNA. The author recently reported a seven-year-old research project in which 116 children with undiagnosed brain muscular lesions, 17 of whom had both mitochondrial respiratory chain defects and an abnormal muscular mitochondrial ultrastructure , Suggesting that there may be clinically mitochondrial encephalopathy. METHODS: The mitochondrial DNA sequences of these 17 children were analyzed by conformational-sensitive gel electrophoresis and sequence analysis to determine