浙江温岭帕金森病线粒体DNA基因突变与多态性研究  

Studies of mutations and polymorphism on cytomicrosome DNA gene of patients with Parkinson disease in Wenling of Zhejiang Province

作　　者：周辰珩[1] 金莹[2] 洪庆[1] 蔡海波[1] 臧秋玲[1] 

机构地区：[1]温州医学院附属温岭医院神经科,317500 [2]温州医学院附属温岭医院中西医结合科

出　　处：《中风与神经疾病杂志》2011年第11期1030-1032,共3页Journal of Apoplexy and Nervous Diseases

摘　　要：目的研究温岭散发性帕金森病(PD)线粒体DNA(mtNDA)基因突变与国人散发性PD相关性。方法对88例散发性PD患者和60例正常健康人的基因位点G1719A、G4580A、C7028T进行扩增,将其异常结果进行基因测序,确定基因突变发生位点。结果在PD患者G1719A附近有4例1711(G→A)1738(A→G),3例1738(A→G),1例1664(G→A)突变;在G4580A附近有1例4476(A→G),1例4638(A→G),1例4651(-→T)突变;在C7028T附近有1例6984(C→T),1例6979(G→C)6984(C→T),3例7083(C→-),4例6963(G→A),1例6910(C→A)突变,共发现11种突变类型,对照组无发现突变位点。结论散发性PD患者存在线粒体基因位点突变,预示线粒体基因突变参与了PD的发病过程。Objective To study on the mutations of cytomicrosome DNA（mtNDA）gene in patients with sporadic Parkinsons disease（PD）in Wenling of Zhejiang Province,and to determine whether there is association between mtNDA gene and its mutations and patients with sporadic PD in Chinese people.Methods G1719A,G4580A and C7028T of mtNDA gene of 88 patients with sporadic PD and 60 normal controls were amplified by polymerase chain reaction（PCR）.Further sequencing was performed in samples with abnormal results,in order to confirm the mutation and its location.Results There were 11 point mutations of mtNDA gene in 21 patients detected by DNA sequencing.There was no deletion and point mutation in normal controls.There were point mutations of G1719A in 4 patients（1711G→A,1738 A→G）,3 patients（1738A→G）and 1 patient（1664G→A）.There were point mutations of G4580A in 1 patient（4476A→G）,1 patient（4638A→G）and 1 patient（4651-→T）.There were point mutations of C7028T in 1 patient（6984C→T）,1 patient（6979G→C,6984C→T）,3 patients（7083C→-）,4 patients（6963G→A）and 1 patient（6910C→A）.Conclusions There were few point mutations of mtNDA gene in part of patients with sporadic PD.Point mutations of mtNDA gene could be one of the pathogenesis of part sporadic PD in Wenling of Zhejiang province.

关 键 词：帕金森病 线粒体DNA基因 突变 

分 类 号：R742.5[医药卫生—神经病学与精神病学]