乙酰胆碱酯酶基因启动子区多态性与散发性阿尔茨海默病的关系  

The association between promoter polymorphism of acetylcholinesterase(AChE)gene and sporadic Alzheimer's disease(SAD)

作　　者：赵蕾 ZHAO Lei(Beijing Shijingshan Hospital,Beijing 100043)

机构地区：[1]北京市石景山医院,北京100043

出　　处：《赣南医学院学报》2021年第2期145-149,共5页JOURNAL OF GANNAN MEDICAL UNIVERSITY

摘　　要：目的:研究中国汉族人群中乙酰胆碱酯酶(AChE)基因启动子区多态性与散发性阿尔茨海默病(SAD)发病之间是否有关系。方法:随机选取10名SAD患者和10名正常对照者进行AChE基因启动子区测序。用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法、变性高效液相色谱法(DHPLC)或直接测序的方法对SAD患者和正常对照者进行多态性分型。通过遗传学统计分析进行等位基因和基因型分布的比较及它们与疾病的关联。结果:中国汉族人群中的AChE基因启动子区存在2个多态性位点rs17883319GC/--和rs3757869A/C。对AChE基因启动子的分析得出,这两个多态性位点的等位基因频率和基因型分布在SAD组和对照组之间差异均无统计学意义(P>0.05),在进行APOE分层分析后仍未发现此基因启动子区多态性与SAD发病风险之间存在关联。结论:中国汉族人群中的AChE基因启动子区存在2个多态性位点rs17883319GC/--和rs3757869A/C,未发现这两个多态性位点与SAD的发病风险之间存在关联。Objective:To study the association between promoter polymorphism of acetylcholinesterase(AChE)gene and sporadic Alzheimer's disease(SAD)in Chinese Han population.Methods:The promoter of AChE gene in 10 SAD patients and 10 healthy controls were randomly sequenced to detect some polymorphisms in these regions.Using PCRRFLP,DHPLC or sequencing to genotype these polymorphisms of SAD patients and healthy controls.By genetic statistical assay to study the association between these polymorphisms and the risk for SAD.Results:By sequencing it was found two polymorphisms in AChE promoter which were rs17883319GC/--and rs3757869A/C.There was no significant difference in the genotype or allele frequencies ofthesepolymorphisms between SAD and controls(P>0.05).After stratified by APOE these polymorphisms did not reach a significant association between SAD and controls.Conclusion:In Chinese Han population,there are found two polymorphisms in AChE promoter which were rs17883319GC/--and rs3757869A/C.But the data did not support the association between these polymorphisms and the risk for SAD.

关 键 词：阿尔茨海默病 乙酰胆碱酯酶 启动子 多态性 

分 类 号：R741.02[医药卫生—神经病学与精神病学]