Familial and sporadic Parkinsons disease Parkin gene exon 4 differences in study.docVIP

 PAGE \* MERGEFORMAT 5 Familial and sporadic Parkinson’s disease Parkin gene exon 4 differences in study Author: LI Li-hong Gao Guodong, Wang Xue-Lian Zhen-Wei Zhao Jia dongyun [Keywords:] Parkinson’s Disease 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 Parkinson’s 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; mutation; exons [Abstract] Objective: The polymerase chain reaction (PCR), gene sequencing technology and TDIFP technology to detect sporadic