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目的 探讨线粒体脑肌病患者骨骼肌线粒体DNA(mtDNA)在 32 4 3及 8344位点点突变与发病类型的关系。方法 提取患者骨骼肌中的DNA ,以两对寡核苷酸为引物行PCR扩增 ,分别应用BglⅠ和ApaⅠ酶切后 ,琼脂糖电泳判定。结果 2例患者nt32 4 3位点出现A→G点突变 ,其中为MELAS和MERRF各一例 ;2例MERRF患者nt8344位点出现A→G点突变 ,其中 1例同时存在着 32 4 3位点突变。结论 nt32 4 3及nt8344位点突变分别与MELAS和MERRF的发病有关。 1例MERRF患者同时存在上述 2个位点的突变 ,这可能与线粒体脑肌病临床表现多样化有关。
Objective To investigate the relationship between the mutation of mitochondrial DNA (mtDNA) at 3243 and 8344 and the pathogenesis in patients with mitochondrial encephalomyopathy. Methods DNA from skeletal muscle of patients was extracted. Two pairs of oligonucleotides were used as primers to amplify the PCR products. The PCR products were digested with Bgl I and Apa I, respectively, and then were judged by agarose gel electrophoresis. Results A → G mutation was found in nt3243 in two patients, one was MELAS and one in MERRF. A mutation of A → G occurred at nt 8344 in 2 cases of MERRF. One case had a mutation of 3243 . Conclusion The mutations of nt32 4 3 and nt 8344 are respectively associated with the pathogenesis of MELAS and MERRF. One case of MERRF in patients with both mutations at the same time, which may be associated with the diversification of clinical manifestations of mitochondrial encephalomyopathy.