线粒体肌病和脑肌病外周血细胞线粒体DNA的定量分析  

Quantitative analysis of mitochondrial DNA in peripheral blood cells of patients with mitochondrial myopathy/encephalomyopathy

作　　者：王朝霞[1,2,3] 李晓东[1,2,3] 陈清棠 贺茂林[1,2,3] 吴小晶 

机构地区：[1]北京医科大学第一医院神经内科 [2]北京红十字会朝阳医院神经内科 [3]空军北京第466医院内科

出　　处：《北京医科大学学报》1999年第3期255-257,共3页Journal of Peking University(Health Sciences)

摘　　要：目的：了解线粒体肌病／脑肌病患者外周血细胞线粒体ＤＮＡ的拷贝数量有无异常。方法：用分子杂交技术对１０例线粒体肌病／脑肌病患者和１６例正常对照者的外周血细胞线粒体ＤＮＡ进行定量分析。结果：在线粒体肌病／脑肌病患者及正常对照者中，均未发现外周血细胞线粒体ＤＮＡ的片段缺失；但前者线粒体ＤＮＡ的拷贝数量较后者明显增多。结论：在线粒体肌病／脑肌病患者的外周血细胞中，线粒体ＤＮＡ的数量较正常人明显增加，与其肌肉中线粒体的异常增生相一致。这一实验方法对线粒体肌病／脑肌病的初筛有一定价值。Objective: To determine the mitochondrial DNA contents in the peripheral blood cells of patients with mitochondrial myopathy/encephalomyopathy. Methods: A quantitative analysis was carried out in mitochondrial DNA of peripheral blood cells from patients with mitochondrial myopathy/encephalomyopathy and normal controls by Southern blotting. Results: Mitochondrial DNA deletions of peripheral blood cells were not found in patients, and nor in the normal control group. However, the amount of mitochondrial DNA in the peripheral blood cells in the patients was much higher than that in normal controls. Conclusison: In the peripheral blood cells of patients with mitochondrial myopathy/encephalomyopathy, the amount of mitochondrial DNA was much higher than that in the normal controls, which was consistent with the mitochondrial proliferation in the muscle cells of these patients. This method is of some value in screening mitochondrial myopathy/encephalomyopathy.

关 键 词：线粒体肌病 线粒体脑肌病 DNA 线粒体 定量分析 

分 类 号：R746.9[医药卫生—神经病学与精神病学]