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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
http://www.100md.com 《第四军医大学学报》 2005年第2期
帕金森病,,帕金森病;基因,突变;外显子,0引言,1资料和方法,2结果,3讨论
     Difference study on sporadic Parkinsons disease and familial Parkinsons disease in exon 4 of Parkin gene

    LI LiHong , GAO GuoDong , WANG XueLian , ZHAO ZhenWei , JIA Dong

    Department of Neurosurgery, Tangdu Hospital, Fourth Military Medical University, Xian 710038,China

    【Abstract】 AIM: To study the difference of exon 4 mutation of Parkin gene between sporadic Parkinsons disease (SPD) and familial Parkinsons disease (FPD) by PCR, gene sequence detection and TDI-FP technique, to explore the important role of Parkin gene in the pathogenesis of Parkinsons 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 Parkinsons disease. Sporadic Parkinson's disease and familial Parkinsons disease have different mutation patterns, which may be related with the different pathogenesis of SPD and FPD. ......

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