NAD(P)H:醌氧化还原酶基因多态性与阿尔茨海默病遗传易感性的关系

摘要

Objective　 To explore the association between the cDNA polymorphism of NAD（P）H:quinone oxidoreductase（NQO1）at gene locus 609 C→T mutation and the genetic sensitivity of the sporadic Alzheimer's disease(SAD). 　Methods　 The polymorphism of NQO1 gene was detected using polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） technique for 120 patients with SAD and 122 normal controls. 　Results　 The C/C genotype and C allele frequencies in SAD were 12.5% and 45.0% decreased than in controls. 　Conclusions　 Our results indicated that SAD was inversely associated with C/C genotype and C allele of NQO1 gene. C allele of NQO1 gene may protect people from SAD.%目的探讨NAD（P）H：醌氧化还原酶（NQO1）基因C609T位点基因多态性与散发性阿尔茨海默病（SAD）遗传易感性的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测了120例SAD患者和122名健康老年人的NQO1基因多态性分布特征。结果 SAD组C等位基因频率低于对照组,SAD组为45.0%，对照组为57.0%（OR=0.63,P＜0.05）。SAD组C/C基因型频率明显低于对照组，SAD组为12.5%，对照组为29.5%（OR=0.34，P＜0.01）。结论 NQO1基因多态性与SAD发病明显关联，NQO1基因609序列C/C基因型、C等位基因与SAD发病呈明显负关联。NQO1基因609序列C等位基因对SAD发病可能有保护作用。