最近在线粒体肌病患者中发现了肌肉线粒体DNA(mtDNA)的缺失。然而因大多数病例是散发的,且个体的缺失涉及到mtDNA的不同部位,所以对引起分子损伤的机制以及它们的传递方式都不清楚。本文作者选择了一个常染色体显性线粒体肌病家系中的四名患者作为研究对象。用限制性内切酶pvu Ⅱ消化从患者及无亲缘 Recently a loss of muscle mitochondrial DNA (mtDNA) was found in patients with mitochondrial myopathy. However, since most cases are sporadic, and individual deletions involve different parts of mtDNA, the mechanisms that cause molecular damage and how they are delivered are not known. The authors selected four patients from a pedigree of autosomal dominant mitochondrial myopathy as subjects. Digestion with restriction enzyme pvu II from the patient and unrelated