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RT-PCR法检测PD线粒体的缺失突变
引用本文:古先祥,李桢,郭锋.RT-PCR法检测PD线粒体的缺失突变[J].中国优生与遗传杂志,2011(5):9-9,4.
作者姓名:古先祥  李桢  郭锋
作者单位:复旦大学上海医学院细胞与遗传医学系;张掖医学高等专科学校;
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。

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

Detecting the deletion mutation of mitochondrial DNA in PDs with RT-PCR
GU Xian-xiang,LI Zhen,GUO Feng..Detecting the deletion mutation of mitochondrial DNA in PDs with RT-PCR[J].Chinese Journal of Birth Health & Heredity,2011(5):9-9,4.
Authors:GU Xian-xiang    LI Zhen  GUO Feng
Institution:GU Xian-xiang1,2,LI Zhen1,GUO Feng1.(1.Department of Cellular and Genetic Medicine,Shanghai Medical College,Fudan University,Shanghai,200032,2.Zhangye Medical School,Zhangye Gansu,734000)
Abstract: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.
Keywords:Parkinson′s disease  mtDNA 4977bp deletion  ComplexⅠ  RT-PCR
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