中华医学杂志（英文版）2001，Vol.114Issue(12)：1273-1275,3.
线粒体脑肌病患者骨骼肌mtDNA点突变与临床类型的研究
Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies
宋东林 1张英谦 1石进 1吕强 1陈晋文 1张宏 1张卫清 1王姮 1蔡庆1
作者信息
- 1. 北京空军总医院神经科,北京,100036
- 折叠
摘要
Abstract
Objective To study the relation between point mutations at nt3243 and nt8344 of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies and phenotypes. Methods DNA was extracted from muscle specimens from 5 patients with mitochondrial encephalomyopathies and amplified by PCR method, using corresponding oligonucleotide primers. DNA fragments were digested with restriction enzymes BglⅠ and ApaⅠ, then the digested DNA fragments were analyzed with an electrophoresis method.Results The point mutation at nt3243 of mtDNA was found in 2 patients, one with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) and another with myoclonic epilepsy with ragged red fibers (MERRF). The point mutation at nt8344 was found in 2 patients with MERRF, including the one with point mutation at nt3243.Conclusion The point mutation of DNA at nt3243 correlated with MELAS and nt8344 correlated with MERRF. In addition, the detection of point mutations at both nt3243 and nt8344 in a patient with MERRF shows the association of mutation with diversity in clinical manifestations of mitochondrial encephalomyopathies.关键词
线粒体脑肌病 线粒体DNA 点突变 聚合酶链反应 限制性内切酶Key words
mitochondrial encephalomyopathies/mitochondrial DNA/point mutation/polymerase chain reaction/restriction enzyme分类
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宋东林,张英谦,石进,吕强,陈晋文,张宏,张卫清,王姮,蔡庆..线粒体脑肌病患者骨骼肌mtDNA点突变与临床类型的研究[J].中华医学杂志（英文版）,2001,114(12):1273-1275,3.
