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目的 探讨中国汉族人群多巴胺 D2 受体基因启动子多态性在帕金森病 (Parkinson’sdisease,PD)遗传易感性中的作用。方法 采用病例 -对照关联分析、聚合酶链反应 -限制性片段长度多态性方法分析了 12 3例 PD患者 (PD组 )与 12 4名健康成人 (对照组 )多巴胺 D2 受体基因启动子多态性。结果 PD组 - 141△ C等位基因频率为 8.5 % ,对照组为 11.7% ,两组差异无显著性 (P>0 .0 5 ) ;中国汉族人PD组和对照组 - 141△ C等位基因频率明显高于意大利南部人群 ,差异有显著性 (P<0 .0 5 )。结论 中国汉族人群多巴胺 D2 受体基因启动子多态性与 PD的遗传易感性无关 ,该多态性有明显的种族差异。
Objective To investigate the role of the promoter polymorphism of dopamine D2 receptor gene in the genetic susceptibility to Parkinson’s disease (PD) in Chinese Han population. Methods Case-control association analysis, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was used to analyze the association between dopamine D2 receptor gene promoter in 12 3 PD patients and 12 4 healthy adults (control group) State. Results The allele frequency of PD group - 141 △ C was 8.5% in control group and 11.7% in control group, with no significant difference between the two groups (P> 0.05) The gene frequency was significantly higher than that of southern Italy, the difference was significant (P <0.05). CONCLUSION: Polymorphism of the dopamine D2 receptor gene promoter in Chinese Han population is unrelated to the genetic predisposition of PD. The polymorphism has obvious racial differences.