摘要
目的:分析线粒体脑肌病患者骨骼肌细胞线粒体DNA的突变情况,为疾病诊断提供依据。方法:用常规苏木精-伊红(H-E)、酶组织化学染色和电镜检查等方法对线粒体脑肌病进行诊断,用聚合酶链反应(PCR)/限制性内切酶酶切方法对线粒体脑肌病伴高乳酸血症和卒中样发作综合征(MELAS)和肌阵挛性癫痫伴肌红纤维断裂综合征(MERRF)的患者进行线粒体基因分析。结果:3例患者均被确诊为线粒体脑肌病,其中例1和例2tRNAleu基因发生A3243G杂合突变,例3发生A8344G杂合突变。结论:线粒体DNA中的tRNA基因突变,是线粒体脑肌病的重要病因之一。
Objective：To examine mitochondrial DNA mutations in mitochondrial encephalomyopathy. Methods ：Three cases of mitochondrial encephalomyopathy were examined by HE staining, histochemical staining methods and electron microscopy. The mutations in mitochondrial genome were studied by polymerase chain reaction/restriction enzyme digestion. Results： The three cases were diagnosed as mitochondrial encephalomyopathy. The examinations revealed that patient 1 and 2 had a heteroplasmic A3243G mutation in tRNA^teu gene, and patient 3 had a heteroplasmic A8344G mutation in tRNA^lys gene. Conclusion ：tRNA gene mutations of mtDNA might be one of the etiologies of mitochondrial encephalomyopathy.
出处
《医学研究生学报》
CAS
2005年第11期989-991,998,i0009,共5页
Journal of Medical Postgraduates
关键词
线粒体脑肌病
线粒体DNA
突变分析
限制性内切酶
Mitoehondrial eneephalomyopathy
Mitoehondrial DNA
Mutation analysis
Restriction enzyme
作者简介
张炳峰（1968-）,男,江苏沭阳人,主管技师,医学硕士,从事临床生物化学和分子生物学专业.
