单胺氧化酶B和NAD(P)H醌氧化还原酶基因多态性与帕金森病的关系  

Polymorphism of MAO-B gene and NAD(P)H: quinone oxidoreductase gene in Parkinson's disease

作　　者：邵明[1] 刘焯霖[2] 陶恩祥[2] 陈彪 

机构地区：[1]第一军医大学珠江医院神经内科,广州510282 [2]中山医科大学神经病学教研室 [3]The Parkinson's Institute of USA

出　　处：《中华医学遗传学杂志》2001年第2期122-124,共3页Chinese Journal of Medical Genetics

基　　金：21 1课题基金!(981 1 9)&&

摘　　要：目的　探讨参与多巴胺代谢的单胺氧化酶 B(monoam ine oxidase B,MAO- B)内含子 13A/ G多态性、NAD(P) H醌氧化还原酶基因 [NAD(P) H:quinone oxidoreductase,NQO1]c DNA6 0 9C/ T多态性与帕金森病 (Parkinson's disease,PD)遗传易感性的关系。方法　应用等位基因特异 PCR扩增分析 MAO-B基因的多态性 ,用 PCR- RFL P分析 NQO1基因多态性。结果　 MAO- B A/ G等位基因频率、各基因型频率 PD组与对照组差异无显著性。NQO1基因 T等位基因频率 PD组 (5 2 % )高于正常对照组 (43% ) ,带 T碱基的 NQO1基因型频率 PD组显著高于正常对照组 (P<0 .0 5 ) ,其患 PD的相对危险度 (odds ratio,OR)为 3.8。在带有 A等位基因 MAO- B基因型的个体 ,带有 T碱基因 NQO1基因型在 PD组占 91.2 % ,对照组占 6 4.4% ,其患 PD的 OR值为 5 .7(P=0 .0 0 1)。结论　 NQO1基因的 T等位基因是 PD的危险因素。MAO- B基因的 A等位基因型与 NQO1基因的 T等位基因的基因型可相互协同 ,增加 PD发生的风险。Objective: To investigate whether Parkinson's disease(PD) is associated with genetic polymorphism of intron 13 of monoamine oxidase B(MAO-B) and NAD(P)H : quinone oxidoreductase (NQO1) gene cDNA 609C to T. Methods: Association study was performed in 126 PD patients and 136 healthy control subjects matched for age, sex and origin. The NQO1 gene polymorphism was analyzed with the polymerase chain reaction-restriction fragment length polymorphism, the polymorphism of intron 13 of MAO-B was analyzed by allele-specific PCR. Results: The allelic frequency of the mutant T allele of NQO1 gene was significantly higher in the PD patients as compared to the controls (P<0.05). The relative risk of suffering from PD increased (OR = 3.8) in the individuals with T allelic genotype of NQO1 gene, and the odds ratio was as high as 5. 7 when the individuals with A or AA genotype of MAO-B gene coexisted with the T allele genotype of NQO1 gene. Conclusion: The cDNA 609T allele of NQO1 gene might be a risk factor of PD, which could be associated with the genetic susceptibility of PD. The high activity A or AA genotype of MAO-B and the low activity genotype of NQO1 gene might have synergistic effect. When both genotypes coexist, the risk of suffering PD will be increased greatly.

关 键 词：帕金森病 单胺氧化酶-B NAD(P)H酯氧化还原酶 

分 类 号：R742.5[医药卫生—神经病学与精神病学]