α_1-抗糜蛋白酶基因多态性与阿尔茨海默病相关性探讨

Analysis of the α_1-antichymotrypsin gene polymorphism in patients with alzheimer disease

目的 :探讨阿尔茨海默病 (AlzheimerDisease,AD)患者中α1 抗糜蛋白酶 (AACT)基因的多态性及其与AD的相关性。方法 :利用聚合酶链反应 (PCR) 限制性片段长度多态性 (RFLP)技术 ,对 4 8例AD患者及 86例对照者的AACT信号肽基因进行分型 ,并进行AD与AACT信号肽基因多态性的相关分析。结果 :①AD病人AACT信号肽A/T基因型占 2 7 1% ,明显低于对照组的 5 1 2 % (P <0 0 1,RR =0 35 5 ) ,T/T占 6 0 4 % ,明显高于对照组的 37 2 % (P <0 0 1,RR =2 5 76 ) ,A/A占 12 5 % ,与对照组 11 6 %无显著性差异 (P >0 0 5 ,RR =1 0 86 )。②AD病人中AACT信号肽等位基因A的频率为 2 6 0 % ,T的频率为 74 0 % ,与对照组 (A37 2 %、T 6 2 8% )无显著性差异 (P >0 0 5 )。结论 :AD病人的AACT T/T可能与AD存在正相关 ;而AACT

Objective:To analyze the characteristic of the α 1-antichymotrypsin (AACT) gene polymorphism in patients with Alzheinmer Disease.Methods: Signal gene of AACT in 48cases with AD and 86 controls were determined by PCR-RFLP technique and the correlation between AD and AACT allele polymorphism were analyzed.Results:(1)Genotype A/T in patients with AD was 27.1%,significantly lower than those in control group (51.2%,P<0.01),but genotype A/A was 12.5%,without any divergence to control group (11.6%,P>0.05);(2)The rate of AACT laaele A and T was 26.0% and 74.0% without divergence to control group (A37.2%,T62.8%).Conclusion:The rate of genotype T/T in patient with AD was significantly higher than controls,which had positive relationship to AD;but the genotype A/T significantly lower,which had negative relationship to AD.