摘要
从１７例原发性线粒体肌病和脑肌病患者骨骼肌活检标本中，经ＤＮＡ抽提、以线粒体ＤＮＡ全长为探针进行ＤＮＡ杂交，并通过聚合酶链式反应，确认两例慢性进行性眼外肌瘫痪患者有线粒体ＤＮＡ改变。其中一例是改变了内切酶ＰｖｕⅡ限制位点的点突变；另一例的线粒体ＤＮＡ存在有约５ｋｂ的＂共有缺失＂大片段。
The skeletal muscle from l7 patients with mitochondrial myopathies and encephalomyopathies were studied. By using Southern hybridization and polymerase chain reaction (PCR), we identfied the changes on mitochondrial DNAs of two patients with chronic progressive external ophthalmoplegia. One of the two cases is the'common deletion'which spans about 5 kilobases in size. In the other case, the mutation demonstrated by PCR ampliflcation plus restriction endonuclease Pvu Ⅱ digestion has been confirmed to be a single base substitution inducing a novel Pvu Ⅱ site around 10909 on mtDNA sequence.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1995年第2期89-91,共3页
Chinese Journal of Medical Genetics
关键词
线粒体肌病
脑肌病
线粒体
DNA
突变分析
Mitochondrial myopathy Mitochondrial encephalomyopathy Mitochondrial DNA Mutation analysis
