散发性帕金森病Parkin基因突变检测  

DETECTION OF Parkin GENE MUTATION IN SPORADIC PARKINSON DISEASE

作　　者：刘珂[1] 滕继军[2] 王修海[1] 

机构地区：[1]青岛大学医学院生物学教研室,山东青岛266021 [2]青岛大学医学院附属医院神经内科

出　　处：《青岛大学医学院学报》2009年第2期104-106,共3页Acta Academiae Medicinae Qingdao Universitatis

基　　金：山东省卫生厅科研基金资助项目(2005H8019)

摘　　要：目的探讨散发性帕金森病病人Parkin基因的突变情况。方法应用聚合酶链反应-单链构象多态性技术(PCR-SSCP),对18例帕金森病病人和20例正常人Parkin基因的第3、4、5、6、7外显子突变情况进行检测分析。结果4例病人有Parkin基因第3外显子点突变,1例病人有Parkin基因第4外显子点突变,2例病人有Parkin基因第5外显子点突变。所有病例均未检测到Parkin基因外显子缺失突变。结论散发性帕金森病病人中存在Parkin基因点突变,Parkin基因点突变可能是散发性帕金森病发病原因之一。Objective To explore the mutations of Parkin gene in patients with sporadic Parkinson disease. Methods The mutations of the exons 3,4,5,6,7 of Parkin gene in 18 patients with Parkinson disease and 20 normal controls were detected by polymerase chain reaction single strand conformation polymorphism （PCR SSCP）. Results The point mutation of exon 3,4,5 of Parkin gene were detected in 4 patients, 1 patient and 2 patients, respectively. No deletion mutation of Parkin gene exon was detected in all patients. Conclusion There are point mutations of Parkin gene in sporadic Parkinson disease, and mutations of Parkin gene might be one of thecauses of sporadic Parkinson disease.

关 键 词：帕金森病 PARKIN基因 点突变 

分 类 号：R742.5[医药卫生—神经病学与精神病学]