【摘要】 目的　探讨阿尔茨海默病 (Alzheimer’sdisease ,AD)患者中的α1-抗糜蛋白酶基因多态性及其与AD的相关性 .方法　利用聚合酶链式反应 -限制性片段长度多态性 (PCR -RFLP)技术对 48例AD患者及 89例对照者的α1-抗糜蛋白酶信号肽基因进行分型 ,进而进行AD与α1-抗糜蛋白酶信号肽基因多态性的相关分析 .结果　①AD病人α1-抗糜蛋白酶基因中 ,基因型A/T占 2 7.1% ,明显低于对照组的 5 1.7% (p <0 .0 1,RR =0 .3 5 5 ) ,T/T占 60 .4% ,明显高于对照组的 3 7.1% (p <0 .0 1,RR =2 .5 76) ,A/A占 12 .5 % ,与对照组 11.2 %无明显差异 (p >0 .0 5 ,RR =1.0 86) .②AD病人中α1-抗糜蛋白酶信号肽基因等位基因A的频率为 2 6.0 %、相对危险率 (RR)为 0 .5 94,T的频率为 74.0 %、RR为 1.683与对照组的A为 3 7.1%、T为 62 .9%差异无显著性意义 (p >0 .0 5 ) .结论　AD病人中α1-抗糜蛋白酶信号肽基因基因型T/T(AACT T/T)频率明显高于正常人 ,与AD存在正相关 ;而AACT A/T频率则明显低于正常人 ,与AD存在负相关更多还原

【Abstract】 Objectives To examine the relationship between the polymorphism of α1-antichy-motrypsin (AACT) gene and Alzheimer’s disease (AD) in Han population of GuangDong area. Methods The polymorphism of AACT were genotyped in 48 cases with AD and 89 controls with amplified fragment length polymorphism typing (Amp-FLP). Results In 48 cases with AD,the frequencies of AACT*T/T T/A and A/A genotype are 51.7%, 27.2% and 12.5% respectively.The frequencies of AACT*A and T Aallele are 26.0% and 74.0% respectively. Conclusions The frequencies of AACT*A/T genotype of polymorphism of AACT gene polymorphism were increased markedly in Chinese,AD is positively related to the T/T genotype of AACT polymorphism.更多还原