Parkinson's Disease Parkin Gene Polymorphism And Dj-1 Gene Point Mutations

Objective: To investigate the association between the -258T/G polymorphism in the promoter of parkin gene and the risk for sporadic Parkinson's disease (SPD) in Guangxi province and the relativity of the age of onset of PD patients.Methods: Polymerase chain reaction (PCR), Restriction fragment length polymorphism (RFLP) and sequence analysis were used to determine the genotype of -258T/G polymorphism between all patients and healthy controls.Results: A total 101 PD patients and 86 healthy controls. There were differences in G allele frequency of the -258T/G polymorphism between PD patients and controls. the G allele more common in cases than controls(54.95% vs 43.60%,χ~2=4.784, p<0.05) . After being stratified by onset age , the frequency of the G allele was significantly higher in patients with an onset age over 50 years than that in the control group (58.46% vs 43.60%,χ~2=6.537,p <0.025) . Furthermore , the frequency of the G allele was more higher in patients with an onset age over 60 years than in controls(66.11 % vs 43.60%,χ~2 =7.244, p<0.01) . on the other hand, there was no significantly difference in the frequency of the G allele between the younger onset PD patients and the controls.Conclusion: our study suggested that the parkin promoter -258T/G polymorphism might be a risk factor for sporadic PD in Guangxi province. The PD patients' G allele frequency were higher than controls. Meanwhile, the G allele was increased significantly in the PD group with an increasing age. Objective: The aim of the study were to investigate the mutation characteristies of DJ-1 gene and whether there were small basic radical deletions or point mutations of the DJ-1 gene in the patients of early-onset parkinson's disease and the patients from the families of autosomal recessive early-onset Parkinsonism (AR-EP) in Guangxi Province.Methods: Polymerase chain reaction (PCR), Single Strand Conformation Polymorphism(SSCP) and sequence analysis were used to determine the mutation characteristies of DJ-1 gene between all patients and healthy controls.Results: We have successly amplificated the exon 2-7of DJ-1 gene in 36 sporadic PD with onset age before 50 and in 12 family PD(the patients from 5 AREP families). 16 normal subjects from 5 AREP families have been amplificated too.No large fragment homozygous deletions were found. Through the method of SSCP , we have not found small basic radical deletions and point mutation.Conclusion: Our current study suggested that the DJ-1 appeared to be a much less frequent cause for PD patients,and there were not small basic radical deletions and point mutation..