论文部分内容阅读
目的研究ATP13A2基因(PARK9)多态性位点c.2236G>A在新疆和田地区维吾尔族人群中的分布及与帕金森病(PD)的关系。方法以在流行病学调查基础上获得的临床上确诊的88例维吾尔族PD患者作为病例组,以当地90例健康配对者为对照组进行病例-对照研究,采用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)对ATPl3A2基因多态性进行分析。结果新疆和田地区维吾尔族PD病例组及对照组均未检测出ATP13A2基因c.2236G>A位点突变GA型和AA型,其变异频率为0。并且ATPl3A2基因c.2236G>A位点多态性在年龄、性别中的分布差异均无统计学意义(P均>0.05)。结论 ATP13A2基因多态性与新疆和田地区维吾尔族人群PD的发生可能无明显相关性。
Objective To investigate the distribution of c.2236G> A polymorphism of ATP13A2 gene (PARK9) in Uygur population in Hetian area of Xinjiang and its relationship with Parkinson’s disease (PD). Methods A total of 88 cases of Uygur PD patients clinically diagnosed on the basis of epidemiological investigation were enrolled in this study. A case-control study was conducted in 90 healthy matched patients in the local area. Polymerase chain reaction-restriction fragments Length polymorphism (PCR-RFLP) analysis of ATPl3A2 gene polymorphism. Results No PD genotypes and AA genotypes of c.2236G> A in ATP13A2 gene were detected in Uygur PD patients and controls in Hetian, Xinjiang. The frequency of mutation was 0. There was no significant difference in age, gender distribution of c.2236G> A polymorphism in ATP13A2 (P> 0.05). Conclusion There is no significant correlation between ATP13A2 gene polymorphism and PD in Uighur population in Hetian area, Xinjiang.