The Research On The Association Between Glucocerebrosidase Gene Mutations And Parkinson’s Disease Of Han Population In Minnan District Of China

Background：Parkinson’S disease(PD)is a common nervous system degenerativedisease,main symptoms are static tremor, myotonia,bradykinesia and posture gait a-bnormal, etc. The pathogenesis of PD may associate with progressive aging, geneticand environmental toxins contact such as the comprehensive factors, among whichgenetic polymorphism plays an important role. In recent years, virulence genes ofGaucher disease (GD):Glucocerebrosidase gene (GBA),which mutation was foundmay increase the risk of suffering from Parkinson’s disease and become the PDgenetics research hot spot. The domestic and international research shows that thehighest mutation rate of GBA gene is the N370S in the PD patients of Jewish people,rather than the non-Jewish populations the L444P mutation most common, showingthat GBA mutations exist significant ethnic and regional differences.The relativity ofthe Ashkenazi Jews population higher GD mutation rate R496H, IVS2+lG-A and theHan nationality GD population higher mutation rate R120W gene with the Hannationality PD patients has been few reported internal and abroad.Objective:To investigate the possible association between glucocerebrosidase genemutations and PD in population of China Minnan District.Method: Using the Polymerase Chain Reaction (PCR) and Restriction fragment lengthpolymorphism analysis (RFLP) combined with sequencing technology to analyseGBA gene.Detect the distribution of GBA geneN370S、IVS2+lG→A、L444P、R496H、F213I、R120W and R353W mutative genotype frequencies of105patients with sporadic Parkinson’s disease patients and397cases of healthy control in Minnanregion. By comparing of genotypes two groups whether there are differences, analysethe relationship of GBA gene polymorphism and local Han nationality PDpatients,non-carriers was verified by the sequencing． Then compare differentgenotypes of PD on clinical symptoms,Hoehn-Yahr grade and UPDRS score,using theSPSS19.0statistical software package to analyse.Result：There’s two patien（t1.91%）who carried a heterozygous mutant GBA L444Pallele among the105PD patients．No N370S、IVS2+lG→A、R496H、F213I、R120Wand R353W GBA gene mutations were found among the105PDpatients.Meanwhile,no heterozygous or homozygous mutant GBA alleles were foundamong the397age and sex matched controls．There’s significant difference on L444Pgene of GBA mutation frequency between the105patients with sporadic PD patientsand397healthy controls in Minnan region.(x2=7.592,P=0．043).Conclusion：1.We found that L444P polymorphisms of the GBA gene influences therisk factor for PD of Han population in Minnan Distict of China.2.GBA gene N370S、IVS2+lG→A、R496H、F213I、R120W and R353W mutationsmay not be the risk factors for PD in Chinese Minnan Distict.