RT-PCR法检测PD线粒体的缺失突变  

Detecting the deletion mutation of mitochondrial DNA in PDs with RT-PCR

作　　者：古先祥[1,2] 李桢[1] 郭锋[1] 

机构地区：[1]复旦大学上海医学院细胞与遗传医学系,200032 [2]张掖医学高等专科学校,734000

出　　处：《中国优生与遗传杂志》2011年第5期9-9,4,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究线粒体DNA突变与自发性帕金森病(PD)的关系。方法从帕金森病患者以及正常对照者血液中提取线粒体DNA并运用RT-PCR法进行检测分析。结果在帕金森患者和对照组中都发现了线粒体DNA 4977bp的缺失,但是在帕金森病患者中缺失的量远大于对照组(P<0.05)。结论线粒体DNA 4977bp的缺失可能是导致帕金森病的机制之一。Objective：To study the relationship between mutation in mitochondrial DNA（mtDNA） and Idiopathic Parkinson′s disease（PD）.Methods：Mitochondrial DNA from blood of patients and normal controls was tested by RT-PCR.Results：mtDNA 4977bp deletion was found in both PDs and normal controls,but the level of the deletion in PDs is higher than that in controls（P〈0.05）.Conclusion：mtDNA 4977bp deletion is likely to contribute to the pathogenesis of PD.

关 键 词：帕金森病 线粒体DNA4977bp缺失 线粒体呼吸链复合物Ⅰ RT-PCR 

分 类 号：R440[医药卫生—诊断学]