【摘要】 目的:分析广西地区早发型帕金森病(Parkinsion’s disease,PD)患者及常染色体隐性遗传早发型帕金森病(autosomal recessive early-onset Parkinsion’s disease,AREP)家系患者DJ-1基因外显子的突变特点,探讨DJ-1基因外显子的突变与广西地区PD关系。方法:应用聚合酶链式反应(PCR)、单链构象多态性(SSCP)及DNA测序等技术查找DJ-1基因缺失突变及点突变。结果:45例早发型散发性PD患者和12例分别来自5个常染色体隐性遗传早发型PD家系的DJ-1基因的2~7号外显子全部被成功扩增,未见大片段缺失。产物经SSCP方法和测序检测,未见点突变与缺失突变。结论:DJ-1基因的突变不是广西地区早发型PD患者的发病的危险因素。更多还原

【Abstract】 Objective:The aim of the study was to investigate the mutation characteristics of DJ-l gene and whether there were small basic radical deletions or point mutations of the DJ-1genes in the patients with autosomal recessive early-onset Parkinsonism (AREP) of the familial PD from Guangxi Province. Methods:The points and deletions of the mutations of DJ-1 genes were determined by polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) and sequence in 45 sporadic PD patients and 12 familial patients from 5 AREP families with onset before 50 year old. Results:The exon 2-7 of DJ-1genes in all patients and the controls were amplified and no small basic radical deletion and point mutation were found. Conclusion:Our results suggest that the DJ-1 gene might not be a genetic risk factor for early-onset patients in Chinese.更多还原