线粒体脑肌病患者的基因突变研究  

The Study of Gene Mutation Associated With Mitochondrial Encephalomyopathies

作　　者：张英谦[1] 吕强[1] 石进[1] 陈晋文[1] 张宏[1] 陈雪涛[1] 张卫清[1] 王姮[1] 宋东林[1] 

机构地区：[1]北京空军总医院神经内科,北京100036

出　　处：《中风与神经疾病杂志》2001年第5期262-263,共2页Journal of Apoplexy and Nervous Diseases

摘　　要：目的　探讨线粒体脑肌病患者骨骼肌细胞线粒体 DNA基因突变情况及发病机制。方法　观察总结5例线粒体脑肌病患者的临床表现、影像学变化特点 ,并应用 PCR、限制性内切酶 Bgl 、Apa 酶切 ,PAGE电泳鉴定 DNA片段长度的方法 ,检测 5例患者骨骼肌细胞中 mt DNA是否发生 nt3 2 4 3和 83 4 4位点 A→ G突变。结果　5例患者 ( 3例 MEL AS和 2例 MERRF)在临床表现和影像学改变等方面均与国外学者的研究结果相符 ,1例MEL AS患者仅存在 3 2 4 3 A→ G点突变 ,1例 MERRF患者存在 83 4 4A→ G点突变 ,1例 MERRF上述 2个位点均存在突变 ,另 2例呈家系起病的 MEL AS患者这 2个位点都无突变。结论　 3 2 4 3及 83 4 4位点突变分别与 MEL AS和 MERRF的发病有关。MERRF患者可以同时存在上述 2个位点的突变。临床表现仍是确诊和分类的主要依据。Objective To study the gene mutation in mitochondrial DNA in the patients with mitochondrial encephalomyopathies,and the pathogenic mechanism of mitochondrial encephalomyopathies. Methods We studied the characteristics of clinical features and brain CT in 5 patients with mitochondrial encephalomypathies. We used the method of PCR to amplify DNA extracted from muscle specimens from these patients. Then the DNA fragments were digested with the restriction enzyme BglⅠand ApaⅠ,and electrophoresed through 10%PAGE. Results The clinical characteristics of 5 patients with mitochondrial encephalomyopathies,including 3 patients with MELAS and 2 patients with MERRF,were consistent with the finding of other doctors in studying the disease. And we also looked for A→G transient at position 3243 in 1 of 3 patients with MELAS as well as 8344 in 1 of 2 patients with MERRF. Another patient with MERRF had the point mutations at nucleotide 3243 and 8344.And the 2 familial patients with MELAS had no A→G transient at position nt3243 and 8344. Conclusion There was a correlation between the point mutation at nt3243 and MELAS,or at nt8344 and MERRF. There may be two point mutations at nt3243 and nt8344 in the patient with MERRF. Clinical features are still the main basis to diagnose and classify mitochondrial encephalomypathies.

关 键 词：线粒体脑肌病 线粒体DNA 点突变 

分 类 号：R746[医药卫生—神经病学与精神病学]