神经肌肉性疾病患者线粒体DNA的缺失  

Deletion of Mitochondrial DNA in Patients with Neuromuscular Disease

作　　者：陆明华[1] 张丽珊[1] 黄鹰[1] 周晓雷[1] 邱定红[1] 魏丽珠[2] 

机构地区：[1]南京铁道医学院生物教研室 [2]南京军区总医院儿科

出　　处：《南京铁道医学院学报》1997年第1期15-16,共2页Journal of Nanjing Railway Medical College

摘　　要：目的：证实神经肌肉性疾病与线粒体ＤＮＡ缺失有关。方法：应用ＰＣＲ技术研究了９例神经肌肉性疾病患者的血细胞或（和）肌肉组织中的线粒体ＤＮＡ，共１５份标本。结果：１例线粒体脑肌病患者ｍｔＤＮＡ中存在至少２９６８ｂｐ的大片断缺失，缺失区位于呼吸链复合物１，４，５的编码区。结论：该ｍｔＤＮＡ突变可能导致神经肌肉性疾病。Objective:To verify the relationship between neuromuscular disease and the mutation of mitochondrial DNA.Method:Polymerase chain reaction(PCR) was used to investigate the mitochondrial DNA in 15 specimens from skeletal muscle and(or) blood cells of 9 patients with neuromuscular disease.Result:The blood mitochondrial was found in a patient with mitochondrial emphalomyopathy.There exists a deletion of at least 2968bp which partially lies in the encode region of respiration chain complex 1,4,5.Conclusion:The neuromuscular disease is associated with the mutation abovementioned.

关 键 词：线粒体 DNA缺失 神经肌肉性 疲劳 

分 类 号：R746.02[医药卫生—神经病学与精神病学]