家族性与散发性帕金森病Parkin基因4号外显子突变的差异性研究_医学论文.docVIP

家族性与散发性帕金森病Parkin基因4号外显子突变的差异性研究_医学论文 家族性与散发性帕金森病Parkin基因4号外显子突变的差异性研究_医学论文 作者：李立宏　高国栋　王学廉　赵振伟　贾栋 【关键词】 帕金森病 　　Difference study on sporadic Parkinsons disease and familial Parkinsons disease in exon 4 of Parkin gene 　　【Abstract】 AIM: To study the difference of exon 4 mutation of Parkin gene between sporadic Parkinsons disease (SPD) and familial Parkinsons disease (FPD) by PCR, gene sequence detection and TDI-FP technique, to explore the important role of Parkin gene in the pathogenesis of Parkinsons disease, and to establish a new method for genotyping of mutation patterns. METHODS: The experiment group included 36 FPD patients and 114 SPD patients, and the control group consists of 150 healthy subjects. The target DNA fragment of Parkin gene exon 4 was amplified by polymerase chain reaction and the lost fragments were chosen. A mutation type and a wideness type were established by clone and gene sequence detection. The FP value of the R110 or TAMRA-labeled ddNTP was detected by TDI-FP assay to determine the SNP mutation genotype. RESULTS: Of the 36 cases with FPD, target DNA fragment lost was found in 10 cases (27%) and point gene mutation was found in 4 cases (11%). Of the 114 cases with SPD, target DNA fragment lost was found in only 2 (1%) cases, but point gene mutation were found in 48 (42%) cases. However, in the control group, no target DNA fragment lost was found, while point mutation was found in 10 (6%) cases. CONCLUSION: Parkin gene mutation may be one of the key factors in the pathogenesis of Parkinsons disease. Sporadic Parkinsons disease and familial Parkinsons disease have different mutation patterns, which may be related with the different pathogenesis of SPD and FPD. 　　【Keywords】 Parkinson disease；genes mutationexons 　　【摘要】 目的： 通过聚合酶链式反应（PCR）、基因测序技术及TDIFP技术，检测散发性与家族性帕金森病Parkin基因4号外显子突变的差异性，探讨Parkin基因突变在PD发病机制中的作用，同时建立一种新的突变检测方法.方法: 以36例家族性及114例散发性PD患者为实验对象，150名正常健康人为阴性对照，通过PCR扩增含Parkin基因4号外显子的DNA片段，电泳分析初次筛选片段缺失者.基因测序技术对无缺失片段进行克隆、测序，筛选出突变型及野生型.最后应用T