全基因组检测线粒体脑肌病的基因突变研究

Whole genome detection of gene mutation in mitochondrial encephalomyopathy DNA

目的探讨全基因组检测线粒体脑肌病(ME)基因突变的临床意义。方法分析8例ME的临床特征、24h视频脑电图(VEEG)、肌电图(EMG)、头颅MRI、全基因组检测基因突变。结果 8例全基因组检测基因突变表明,存在核基因突变8例、有氨基酸改变7例、线粒体基因突变8例;其中t RNA基因突变5例、TRNL1基因突变4例、ATP6基因突变3例、ND5和TRNS2基因突变各1例。核酸3243A>G改变4例(50%),其他有8860A>G,11719G>A,14766C>T,8993T>G等4例(50%),氨基酸改变4例。结论ME患者大多存在核基因的突变,线粒体的5个mt DNA均可发生突变。本组患者核酸改变仅50%发生在3243位点,检测核基因和线粒体基因是诊断ME的依据之一。

Objective To probe into the significance of whole genome detection of gene mutation in mitochondrial encephalomyopathy （ ME ） . Method To analyze the charactor of clinical presentation,24 hour video el ectroencephalogram,electromyogram,head magnetic resonance imaging,whole genome detection. Results In the eight patients,eight cases showed gene mutation in nuclear DNA （ nDNA ） containing six cases amino acid change .Eight cases showed gene mutation in mitochondrial DNA （ mtDNA ） including five cases of tRNA gene mutation,four cases of TRNLI gene mutation, three cases of ATP6 gene mutation, one case of ND5 and TRNS2 gene mutation,respectively. Nucleic acid changes 3243A〉G in 4 cases （50%） ,others 8860A〉G,11719G〉A,14766C〉T,8993T〉G et al in 4 cases （ 50% ） containing four cases amino acid change. Conclusion In the patients with ME, most of the mutations are found in nDNA. Five of mtDNA can occur mutation all.Nucleic acid changes 3243A〉G in about 50 percentage. Detection of nDNA and mtDNA was one basis for the diagnosis of ME.