早老素-2基因启动子区-1560A/del位点多态性与散发性阿尔茨海默病的相关性研究  

The association of polymorphism of presenilin 2 gene promoter region in Alzheimer's disease

作　　者：权文香[1] 白云峰[2] 前田潔 

机构地区：[1]北京大学第六医院,100083 [2]解放军302医院 [3]日本神户大学精神神经科

出　　处：《神经疾病与精神卫生》2008年第3期170-172,共3页Journal of Neuroscience and Mental Health

摘　　要：目的探讨早老素-2(PSEN2)启动子区-1560A/del的多态性与散发性阿尔茨海默病(SAD)的相关性。方法用常规方法从被试者外周血细胞中提取基因组DNA,通过使用聚合酶链反应-限制性片断长度多态性方法(PCR-RFLP)检测早老素-2基因启动子区域-1560A/del位点的多态性。被试者均来自日本,包括348例SAD患者和年龄、性别相匹配的330例正常对照。观察PSEN2基因启动子区域的多态性分布,用卡方检验和逻辑回归分析进行统计。结果SAD患者组与对照组PSEN2基因的-1560A/del多态性的基因型与等位基因的总体分布无明显统计学意义。(χ2=1.09,P>0.05)。结论PSEN2基因启动子区域的-1560A/del多态性可能不是散发性AD发病的风险因素。Objective To explore the association between the polymorphism in the promoter region of presenilin2（PSEN2） gene and sporadic Alzheimer＇s disease （SAD） in Japanese population. Methods Genomic DNA was extracted from blood of patients and controls. Polymorphism distribution of the PSEN2 gene was detected by using polymerase chain reaction-restrictive fragment length polymorphism （PCR-RFLP）. 348 patients with SAD, along with age- and sex-matched 330 controls were examined. Results No statistical difference was observed in genotype or allele between SAD and controls （ χ^2 = 1.09, P 〉 0.05）. Conclusions PSEN2 promoter - 1560A/del polymorphism was not genetic risk factor for SAD.

关 键 词：散发性阿尔茨海默病 早老素-2 启动子 多态性 

分 类 号：R749.16[医药卫生—神经病学与精神病学]