α1-抗糜蛋白酶基因信号肽和微卫星多态性的关系及其对阿尔茨海默病的作用  

Relationship between the microsatellite polymorphism and signal peptide polymorphism of α1-antichymotrypsin gene in Alzheimer disease

作　　者：汤国梅[1] 江三多[1] 林嗣萃[1] 钱伊萍[1] 汪栋祥[1] 陈美娣[1] 金通观[2] 张明园[3] 

机构地区：[1]上海市精神卫生中心遗传研究室,200030 [2]上海市精神卫生中心老年科,200030 [3]上海市精神卫生中心生物统计室,200030

出　　处：《中华精神科杂志》2000年第2期73-76,共4页Chinese Journal of Psychiatry

基　　金：上海市卫生局科技发展基金!资助项目 (9841 0 )

摘　　要：目的　探讨中国上海地区汉族人中α1抗糜蛋白酶 (AACT)基因中信号肽多态性和微卫星多态性的相互关系及其在阿尔茨海默病 (AD)中的作用。方法　采用聚合酶链式反应 限制性片段长度多态性 (PCR RFLP)方法及扩增片段长度多态性技术 (Amp FLP) ,观察 6 3例AD患者和 6 8名健康老年人的AACT基因信号肽多态性及微卫星多态性和早老素 1(PS1)基因、载脂蛋白E(apoE)基因多态的分布。结果　 (1)AACT信号肽多态性中的T等位基因与微卫星多态性的A8(15 9bp)等位基因(AACT A8)可能呈共同分离的趋势 ;(2 )apoE基因ε4 等位基因 (apoE ε4 )、AACT基因T等位基因(AACT T)和AACT A8等 3种等位基因的共存与AD显著关联 (OR =3 0 2 ,95 %CI:1 10～ 8 33,χ2 =4 14,P <0 0 5 )。结论　上海地区汉族人群中AACT基因信号肽多态的AACT T、AACT A8与apoE ε4的共存可能构成了AD的风险因子。Objectives The purpose of this study was to determine the relationship between the two polymorphisms of α1 antichymotrypsin(AACT) gene, which dinucleotide repeats sequence microsatellite polymorphism located 2 5 kb from the section start of AACT gene and the T/A polymorphism in the signal peptide of AACT gene, in the patients with Alzheimer disease (AD) in Chinese Han population of Shanghai Methods The microsatellite polymorphism was genotyped with amplified fragment length polymorphism typing (Amp FLP) and the signal peptide polymorphism was determined by PCR RFLP method in 63 AD patients and 68 healthy controls Results (1) The co separated trend was displayed between the T signal sequence allele and the A8 microsatellite allele in both control and AD groups (2)The coexistence among AACT *T allele, AACT *A8 microsatellite allele, and the apoE *ε 4 allele was associated with AD significantly ( OR =3 02, 95% CI : 1 10～8 33, χ 2=4 14, P <0 05) Conclusion The coexistence of AACT signal peptide T allele, A8 microsatellite allele and apoE *ε 4 allele might be a genetic risk factor of AD in Chinese Han population of Shanghai

关 键 词：Α1-抗糜蛋白酶 早老性痴呆 信号肽 微卫星多态 

分 类 号：R749.1[医药卫生—神经病学与精神病学]