Objective To investigate the relationship of RS3831458 polymorphism of α-synuclein gene and Parkinson’s disease ( PD) in different Hoehn-Yahr ( H-Y) grading.Methods The RS3831458 polymorphism of α-synuclein were detected by gene sequencing in 95 PD patients ( PD group) and 95 healthy controls ( normal control group) .The relationship between RS3831458 polymorphism and PD were analyzed.Results Compared with normal control group, the frequency of -/CT genotype in PD group was significantly higher, and the frequency of AG/CT genotype was significantly lower ( all P<0.05 ) .Compared with H-Y <3 PD subgroup, the frequency of -/CT genotype in H-Y≥3 PD subgroup was significantly higher, and the frequency of AG/CT genotype was significantly lower(all P<0.05).The-/CT genotype was positively correlated with the disease severity of PD (χ2 =4.633, OR=2.456, 95%CI:1.076-5.605, P<0.05), and AG/CT genotype was negatively correlated with the disease severity of PD (χ2 =4.633, OR=0.407, 95%CI:0.178-0.929, P<0.05).Conclusions The frameshift mutation of RS3831458-/CT genotype can exacerbate the PD.
Objective To investigate the association of α-synaptophysin A53T gene polymorphism with parkinson's disease(PD) in Chinese people.Methods The conventional polymerase chain reaction was used to detect the α-synaptophysin A53T gene polymorphism in 224 sporadic PD patients(PD group)and 154 healthy individuals(control group).According to the Hoehn-Yahr(H-Y) classification standard, PD patients were divided into H-Y ≥ 3 group(n=172) and H-Y ≤ 2.5 group(n=52).Each genotype and alleles frequencies as well as the A53T gene expression and their relation to the severity of parkinson's disease were analyzed with Chi-square test of SPSS19.0.Results The frequency of the A53T genotype of A/A were 40(17.9%) and 10(6.5%) (x2 =10.267, P=0.001, OR=3.13,95% CI =1.514-6.473) in the PD group and control group, respectively.The frequency of the allele A was 160(35.7%) and 70(22.7%) (x2 =14.543, P=0.000, OR=1.889,95% CI =1.359-2.625) in the PD group and control group,respectively.The frequency of the A53T genotype of A/A was 30(17.4%) and l0 (19.2%) in the H-Y ≥ 3 group and H-Y ≤ 2.5 group, respectively, with significant difference (P=0.003,0.007) as compared to the control group.The frequency of the allele A was 122(35.5%) and 38(36.5%) in the the H-Y ≥ 3 group and H-Y ≤ 2.5 group,respectively, with significant difference (P=0.000,0.006) as compared to the control group.There was no statistically significant difference of the A53T genotype of A/A and the allele A between the H-Y≥3 group and H-Y≤2.5 group (P=0.768,0.841).Conclusion The A53T gene polymorphism is the risk factor of Parkinson's disease in Chinese people, but it isn't correlated to stage of sporadic parkinson' s disease.
蒙成药“阿嘎日-10”治疗房室传导阻滞46例,结果表明临床症状缓解率为98%,心电图恢复率为87%.