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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 understand the mitochondrial DNA copy number of peripheral blood cells in patients with mitochondrial myopathy / encephalomyopathy. Methods: The mitochondrial DNA of peripheral blood cells of 10 patients with mitochondrial myopathy / encephalomyopathy and 16 normal controls were analyzed by molecular hybridization. Results: The deletion of mitochondrial DNA in peripheral blood cells was not found in mitochondrial myopathy / encephalomyopathy patients and normal controls. However, the number of copies of mitochondrial DNA in the former was significantly higher than the latter. CONCLUSIONS: The number of mitochondrial DNA in peripheral blood cells of patients with mitochondrial myopathy / encephalomyopathy is significantly increased compared with that of normal individuals, consistent with the abnormal proliferation of mitochondria in their muscles. This experimental method for mitochondrial myopathy / encephalomyopathy screening of some value.