Difference study on sporadic Parkinson¬ðs disease and familial Parkinson¬ðs disease in exon 4 of Parkin gene

    LI Liª²Hong , GAO Guoª²Dong , WANG Xueª²Lian , ZHAO Zhenª²Wei , JIA Dong

    Department of Neurosurgery, Tangdu Hospital, Fourth Military Medical University, Xi¬ðan 710038,China

    ¡¾Abstract¡¿ AIM: To study the difference of exon 4 mutation of Parkin gene between sporadic Parkinson¬ðs disease (SPD) and familial Parkinson¬ðs disease (FPD) by PCR, gene sequence detection and TDI-FP technique, to explore the important role of Parkin gene in the pathogenesis of Parkinson¬ðs 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¬ðs disease. Sporadic Parkinson's disease and familial Parkinson¬ðs disease have different mutation patterns, which may be related with the different pathogenesis of SPD and FPD. ......