ABSTRACT
Objective To study the polymorphism of glucocerebrosidase ( GBA) gene of N370S, V394L, L444P, R120W, R359X, R496H, R353W and RecNcil in the patients with Parkinson's disease ( PD) in Han, Uygur and Kazak in Xinjiang and to investigate the relationship between GBA gene polymorphism and Parkinson's disease.Methods GBA gene polymorphism was analyzed by improved multiplex ligation detection reaction technique in 294 sporadic PD patients (100 cases of Uygur, 134 cases of Han, 60 cases of Kazak) and 305 healthy controls (109 cases of Uygur, 122 cases of Han, 74 cases of Kazak) in Xinjiang area.Results There were two L444P loci polymorphisms that were heterozygous mutations in 294 cases of PD patients and the mutation frequency was 0.7%.Three hundred and five cases of control group did not show L 444P polymorphism.There were no significant differences in L 444P genotype and allele frequency distribution between PD group and control group ( AA:99.3%vs 100.0%, GA:0.7%vs 0, P>0.05;G:0.3%vs 0, A:99.7%vs 100.0%, P>0.05);L444P genotype and allele frequency distribution in Han and Uygur patients with PD showed no significant differences ( AA:99.3% vs 99.0%, GA:0.7%vs 1.0%, P>0.05;G:0.4%vs 0.5%, A:99.6%vs 99.5%,P>0.05);N370S, V394L, R120W, R359X, R496H, R353W, RecNcil loci polymorphisms were not found in the PD and control groups.Conclusion The GBA gene of N370S, V394L, R120W, R359X, R496H, R353W, RecNcil showed no polymorphism in Xinjiang Han and Uygur population and there was no association of L 444P polymorphism with Parkinson's disease in Han and Uygur populations in Xinjiang .