Molecular Genetic Study On The Mutation Of Parkin Gene In Sporadic Later-onset Parkinson’s Disease

BackgroundParkinson’s disease (PD) is the second most common progressive neurodegenerativebrain disorder. In most instances，the etiology of Parkinson’s disease is complicated.Major progress has been achieved in the identification of genes associated withParkinson’s disease.To date, it has been found about more than10genes which haveassicati on with PD, six genes have now been shown conclusively to play a role in PDsusceptibility, which were a-synuclein (SNCA)，Parkin(PARK2)，PTEN-induced putativekinase1(PINK1)，DJ-1(PARK7)，Leucinerich repeat kinase2(LRRK2)，ATP13A2.Generally, recessive forms of young-onset Parkinson disease were known to be associatedwith mutations in Parkin, PINK1, DJ-1, ATP13A2, whereas alpha-synuclein and LRRK2are responsible for autosomal dominant forms of Parkinson’s disease. There are manyreports about Parkin and many mutations were found in familial and early-onsetParkinson’s disease. There are also some reports which found mutations of Parkin insporadic Parkinson’s disease, but the frequency and forms are not clear, and the resultswere not coincident.ObjetiveTo study on the mutations of Parkin gene at exon3,4,5and7in sporadic late-onsetParkinson’s disease, to explore the association between mutations of Parkin gene andpatients in sporadic late-onset Parkinson’s disease in Shan Dong provience.MethodsThis study included80subjects, with40patients with sporadic PD and40controls.The diagnosis of all the patients was made according to the criteria of Chinese MedicalAssociation neuropathy credits movement disorders and Parkinson’s disease group. Thecontrols were healthy individuals without neurodegenerative diseases. Genomic DNA was extracted from peripheral-blood leukocytes according to standard procedures from patientsand controls, respectively. Polymerase chain reactions (PCR) were performed using theprimers of exons3,4,5,7of Parkin,then the produces were under agarose gelelectrophoresis to observe the location of the strap in the ultraviolet light. Each acquiredproduct was purified and directly sequenced. Finally in order to confirm the loacation andform of the mutation of Parkin,comparing is performed between the sequencing resultsand the gene bank.ResultsThe PCR products of all the subjects were shown, and all the products were acquiredin the ultraviolet light, and there were no abnormal products and did not found any deletionand duplication. After analysis of sequencing and comparing, we didn,t detected anymutation.ConclusionsAll the patients and the controls acquired products after PCR and agarose gelelectrophoresis. After comparing anlysis, all the cases had not any deletion, duplication,insertion or point mutation. The rate of mutation of Parkin gene may be low in sporadicLater-onset Parkinson,s disease in Shan Dong provience.