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神经肌肉性疾病患者线粒体DNA突变的研究分析 被引量:2

An Analysis of the mt DNA Mutation of the patients with Neuromuscular Disease
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摘要 目的 为了探讨神经肌肉怀疾病的发病与线粒体DNA突变的关系。方法 采用PCR技术检测18例患有不同神经肌肉性疾病患者的外周血和骨骼肌细胞中的线粒体DNA。结果 其中5例患者有mtDNA526bp段缺失,此缺失区于线粒体呼吸链复合物的编码区。结论 表明该突变对神经肌肉性疾病的发生有一定作用。 Objective:To understand the relation to mechanism of neuromuscular disease and mtDNA mutation.Methods:using PCR technique,we investigated blood and or skeletal muscle of 18 patients with neuromuscular diseases.Results:A deletion in the length of 526 bp was found in blood mitochondrial DNA of 5 patients with neuromuscular disease.The deletion region partially lies in the coding region of respiratory cham complex.Conclusion:It is suggested that this mutation is related to neuromuscular diseases.
作者 盛健 张怡元
出处 《福建医药杂志》 CAS 2000年第3期99-100,共2页 Fujian Medical Journal
基金 福建医科大学苗圃资金资助
关键词 线粒体DNA 神经肌肉性疾病 基因突变 基因缺失 Mitochondrial DNA Deletion Neuromuscular disease
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