毒物代谢酶基因多态性与阿尔茨海默病遗传易感性的相关研究  

The Relationship between the Genetic Polymorphorphism of Detoxifying Enzymes and Hereditary Susceptibility of Alzheimer's Disease

作　　者：欧阳晓春[1] 余小骊[1] 刘振华[2] 吴多斌[2] 

机构地区：[1]解放军第94医院神经内科,南昌330002 [2]南方医科大学珠江医院神经内科,广州510515

出　　处：《江西医学院学报》2007年第2期20-23,共4页Acta Academiae Medicinae Jiangxi

摘　　要：目的探讨细胞色素P4501A1基因和N-乙酰基转移酶基因多态性与阿尔茨海默病的关系。方法采取病例对照研究方法及聚合酶链反应-限制性片段长度多态性技术分析135例散发性AD与138例正常健康对照组的细胞色素P4501A1基因MSP1位点及NAT2基因型在阿尔茨海默病患者与正常人之间的分布差异。结果细胞色素P4501A1各基因型在两组中分布差异无显著性意义;NAT2基因慢乙酰化型基因型在AD组中的分布频率(21.5%)明显高于对照组(12.3%),OR值达1.947。结论细胞色素P4501A1基因MSP1的多态性与阿尔茨海默病的遗传易感性无关;N-乙酰基转移酶基因多态性与AD的遗传易感性相关。Objective To investigate the relationship between Alzheimer disease and the poly- morphisms of CYP1A1 gene and NAT2 gene. Methods It was a case-controlled study. A polymerase chain reaction-restriction fragment length polymorphism test was performed by means of case-control in 135 patients with Alzheimer disease and 138 age-matched randomly selected controls to detect the distribution of the three genotypes of CYPIA1 at MspI site（A, B, C） and NAT2 slow acetylator genotype caused by three common mutations. Results There were no differences in the distributions of CYP1A1 genotypes between the two groups. The distribution frequency of NAT2 slow acetylator genotype was 21.5% in AD group, significantly higher than that in the control group （12. 3%）. Conclusion Our results suggest that the MspI polymorphisms of CYP1A1 itself might not be association with AD, but the slow acetylator genotype of N-acetyltransferase 2 might be associated with an increased risk for idiopathic AD.

关 键 词：阿尔茨海默病 细胞色素P450 1A1 N-Z酰基转移酶 多态现象 遗传学 

分 类 号：R749.16[医药卫生—神经病学与精神病学]