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目的 探讨线粒体肌病和脑肌病的骨骼肌线粒体DNA(mtDNA)缺失情况。方法 从1例线粒体肌病和 1例脑肌病 (MERRF)患者骨骼肌活检标本中 ,提取总DNA ,以限制性内切酶PvuⅡ酶切 ,与mtDNA全长探针进行分子杂交。结果 线粒体肌病和MERRF患者分别有 15kb和 5kb的mtDNA基因缺失。结论 mtDNA基因缺失是线粒体肌病和脑肌病的重要病因之一。
Objective To investigate the loss of mitochondrial DNA (mtDNA) in mitochondrial myopathy and encephalomyopathy. Methods Total DNA was extracted from one skeletal muscle biopsy specimen of mitochondrial myopathy and one case of encephalomyopathy (MERRF). The total DNA was extracted by Pvu Ⅱ restriction endonuclease digestion and hybridized with full length mtDNA probe. Results Mitochondrial myopathy and MERRF patients were 15kb and 5kb mtDNA gene deletion. Conclusion MtDNA gene deletion is one of the important causes of mitochondrial myopathy and encephalomyopathy.