Correlation Study Between Glucocerebrosidase Genetic Polymorphisms And Idiopathic Parkinson Disease

Parkinson’s disease (PD) is a common degenerative disease of the central nervous system.Thus, symptoms are developed, such as akinesia,rigidity and tremor. The aetiology of neuronal death in PD still remains unclear. Several possible mechanisms of the degeneration of dopaminergic neurons are still elusive. The glucocerebrosidase (GBA) gene mutation is emerging as an important risk factor for Parkinson’s disease.someone previously reported that the GBA gene mutation is an important risk factor for IPD.Objective:To study the N370S,V394L and L444P mutation sites polymorphisms of glucocerebrosidase(GBA) gene in Idiopathic Parkinson’s disease(IPD)。explore the relationship between GBA gene and PD, Methods:The genomic DNA of50IPD patients were extracted, exons8-11of GBA amplified, amplified products by1.5%agarosegelelectrophoresis to ensure that the observation fragment was successfully amplified.then exon9and exon10of GBA gene were amplified.The frist PCR purified products were defied as template,and then the second purified PCR products were sequenced. Purified and sequenced, the results of sequencing and NCBI Blast2software for online comparison。 Result:we found none allele Among the102IPD patients and127healthy people who carried a heterozygous mutant. GBA gene N370S,V394L and L444P mutations may be not risk factors for IPD in study.ConcIusions:1. Not support GBA genes N370S, V394L and L444P mutations were risk factors of idiopathic Parkinson’s disease.2.The results showed no mutation, We think it is also caused by the less amount of samples and the inevitable error.。...