依赖还原型辅酶Ⅰ/Ⅱ醌氧化还原酶基因多态性与帕金森病遗传易患性的关系  

Association between the genetic polymorphism of NAD(P)H: quinone oxidoreductase gene and susceptibility of Parkinson disease

作　　者：邵明[1,2,3] 刘焯霖[1,2,3] 陶恩祥[1,2,3] 潘锡榜 陈彪 

机构地区：[1]中山医科大学神经病学教研室 [2]第一军医大学附属珠江医院神经内科 [3]美国帕金森病研究所

出　　处：《中华神经科杂志》1999年第1期10-12,共3页Chinese Journal of Neurology

摘　　要：目的探讨依赖还原型辅酶Ⅰ／Ⅱ醌氧化还原酶基因ｃＤＮＡ６０９位碱基Ｃ→Ｔ点突变所致的基因多态性是否与帕金森病遗传易患性有关。方法采用聚合酶链反应限制性片段长度多态性（ＰＣＲＲＦＬＰ）的方法分析了１２６例帕金森病（ＰＤ）病人与１３６名健康成人对照组ＮＱＯ１的基因多态性。结果ＰＤ组的Ｔ等位基因频率为５２％，而对照组为４３％，两组差异有显著意义（Ｐ＜０．０５）。基因型分布在ＰＤ和对照组之间差异有显著意义（Ｐ＜０．０５），带Ｔ等位基因的个体患ＰＤ的风险增加３．８倍。结论本研究结果提示ＮＱＯ１基因ｃＤＮＡ６０９突变Ｔ等位基因可能是ＰＤ发生的危险性因素，与ＰＤ的遗传易患性有关。Objectives To investigate whether Parkinson's disease (PD) is associated with genetic polymorphisms of NQO1 gene caused by the point mutation of cDNA 609 C to T. Methods The polymorphism of NQO1 gene was analyzed in 126 patients with PD and 136 unrelated healthy adult individuals with polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). Results In this study, the frequencies of T allele were 52 % and 43% in the PD ground and the health control group respectively, which was significantly different between the two groups. The allelic frequency of the mutant T allele was significantly higher in the PD patients as compared to the controls( P <0.05). There was a significant difference in the overall genotypical distribution between the patients and the controls ( P < 0.05). The risk of suffering from PD was increased 3.8 times in the individuals with T allelic genotype of NQO1 gene. Conclusion This study suggested that the cDNA 609 T allele of NQO1 gene might be the risk factor of PD, which could be associated with the genetic susceptibility of PD.

关 键 词：震颤性麻痹 NAD(P)H脱氢酶 遗传易感性 

分 类 号：R742.502[医药卫生—神经病学与精神病学]