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目的 探讨依赖还原型辅酶 / 醌氧化还原酶 [NAD(P) H:quinone oxidoreductase,NQO1]c DNA6 0 9位点 C→ T多态性与帕金森病 (Parkinson’sdisease,PD)遗传易感性的关系。方法 用聚合酶链反应 -变性高效液相技术 (polymerase chain reaction- denaturing high performance liquid chromatog-raphy,PCR- DHPL C)分析了 NQO1基因c DNA6 0 9位点C→T多态性在 PD患者与正常对照之间分布频率的差异。结果 PD组和对照组的 TT基因型频率分别为 2 2 .6 %和 11.8% (P=0 .0 0 4 ) ,TT基因型使患 PD的危险度提高 2 .186倍 (P=0 .0 0 5 ) ;根据发病年龄分组后 ,这种差异主要存在于晚发性 PD和对照组之间 ,TT基因型使患 PD的危险度提高 2 .6 2 7倍 (P=0 .0 0 1)。等位基因在总体 PD组、早发 PD组、晚发 PD组和对照组中的频率分布差异无显著性。结论 NQO1基因c DNA6 0 9位点C→T多态性在对照组和PD患者之间的分布差异有显著性 ,突变基因型 (TT基因型 )频率在 PD组中较高 ,研究结果支持 NQO1基因多态性与 PD相关的假说 ,而且与 PD发病年龄有关。
OBJECTIVE: To investigate the genetic predisposition of C → T polymorphism at the site of C680 (NAD (P) H: quinone oxidoreductase, NQO1] c DNA and Parkinson’s disease (PD) dependent on reduced coenzyme / quinone oxidoreductase relationship. Methods PCR-DHPL C was used to analyze the polymorphisms of C → T polymorphism at the C660 of NQO1 gene in patients with PD Differences in frequency distribution between normal controls. Results The frequencies of TT genotypes in PD group and control group were 22.6% and 11.8%, respectively (P = 0.040). The TT genotype increased the risk of PD by 2.186 times (P =. 0 0 5). According to the age of onset, the difference was mainly between late PD and control group. TT genotype increased the risk of PD by 2.627 times (P = 0. 0 0 1). There was no significant difference in the frequency distribution of alleles between the overall PD group, the early PD group, the late PD group and the control group. Conclusion The distribution of C → T polymorphism at the site C660 of NQO1 gene is significantly different between control group and PD group. The frequency of TT genotype is higher in PD group. The results support NQO1 Genetic polymorphisms and PD-related hypothesis, but also with the age of onset of PD.