| 神经肌肉性疾病患者线粒体DNA突变的分析
Analysis on the Mitochondrial DNA of Patients with Neuromuscular Diseases |
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| 引用本文： | 魏丽珠,伏洁,刘光陵,王晓燕,王兆全WEI Li-zhu,FU Jie,LIU Guang-ling,WANG Xiao-yan,WANG Zhao-quan.神经肌肉性疾病患者线粒体DNA突变的分析
Analysis on the Mitochondrial DNA of Patients with Neuromuscular Diseases[J].遗传,1999,21(2):13-15. |
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| 作者姓名： | 魏丽珠 伏洁 刘光陵 王晓燕 王兆全WEI Li-zhu FU Jie LIU Guang-ling WANG Xiao-yan WANG Zhao-quan |
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| 作者单位： | 南京军区南京总医院儿科, 南京 210002
Department of Paediatrics,Jinling Hospital,Nanjing 210002 |
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| 摘 要： | 为了探讨神经肌肉性疾病的发病与线粒体DNA突变的关系,采用PCR技术检测了 20例患有不同神经肌肉性疾病儿童的外周血和骨骼肌细胞中的线粒体DNA(mtDNA),发现其中6例患儿有mtDNA缺失,其中1例至少有2968bp片段的缺失, 另5例至少有2000bp片段的缺失,此缺失区位于线粒体呼吸链复合物1、 4、5、编码区,表明该突变对神经肌肉性疾病的发生有一定作用。
Abstract:To understand the relation to mechanism of neuromuscular disease and mtDNA mutation,using PCR technique,we investigated blood and /or skeletal muscle of 20 patients with neuromuscular diseases.A deletion in the length of 2000~2968bp was found in blood mitochondrial DNA of 6 patients with neuromuscular disease.The deletion region partially lies in the coding region of resoiratony chain complex 1,4,5.It is suggested that this mutation ois related with neuromuscular diseases.
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| 关 键 词： | 线粒体DNA 缺失 神经肌肉性疾病 Key works Mitochondrial DNA Deletion |
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