Molecular Genetic Study On The Mutation Of Parkin Gene In Sporadic Parkinson's Disease

Objective To study on the mutations of parkin gene at exon 3,4,5,6 and 7 in patients with sporadic Parkinson's disease(PD),and to determine whether there are any association between Parkin gene and its mutations and patients with sporadic PD in Chinese people.Methods Exon3,4,5,6 and 7 of parkin gene of 32 patients with sporadic PD and 40 normal controls were amplified by polymerase chain reaction(PCR),and mutations of parkin gene(exon 3-7) in all the subjects were screened by PCR-single strand conformation polymorphism(SSCP). Further sequencing was performed in samples with abnormal SSCP results,in order to confirm the mutation and its location.We also compared the clinical features of patients with parkin mutations and those without mutations.Result①All exons of parkin gene from the research subjects were successfully amplified, which was verified by agarose gel electrophoresis(AGE),and there were no exon deletion in parkin gene;②There were 9 point mutations of parkin gene in 9 patients after PCR-SSCP(point mutation of exon3 in 2 patients,exon4 in 5 patient and exon5 in 2 patients).There was no exon deletion and point mutation in normal controls;③There were point mutations of exon4(130G→A),and of exon5(65G del) detected by DNA sequencing.There were no sequence changing of exon3 confirmed by DNA sequencing.@There were early-onset age and more severe symptoms in patient of sporadic PD with parkin mutations.Conclusion①There were no exon deletion mutation of parkin gene in all research subjects with sporadic PD;②There were few point mutations of parkin gene in part of patients with sporadic PD,and the rate of mutation is low;③The patients of sporadic PD with parkin mutations have early-onset and more severe symptoms than in patients of sporadic PD without parkin mutations.④Point mutations of parkin gene could be one of the pathogenesis of part sporadic PD.