【摘要】 目的探讨北方地区汉族人干扰素(IFN-r)基因单核苷酸多态性(SNP)和IFN-r血中表达水平与再生障碍性贫血(再障、AA)的相关性。方法应用顺序特异性引物和聚合酶链反应(PCR-SSP)技术,检测了36例AA患者(再障组)和40例健康献血者(对照组)中IFN-r启动子基因874位点的多态性变化,同时应用酶联免疫吸附试验(ELISA)测定两组血清中IFN-r的表达水平。结果结果表明AA组IFN-r(874T)等位基因频率(33.33%)显著高于对照组IFN-r(10.0%),P<0.05;AA组IFN-r含量(1.760±0.108)显著高于对照组(0.721±0.065),P<0.05,两组之间比较差异有显著性意义,提示该等位基因频率增高和血清IFN-r的蛋白表达与AA相关。结论我国北方地区汉族人IFN-r基因874T位点的多态性和血清IFN-r的蛋白表达水平显著升高在AA的疾病病程中有重要作用,IFN-r启动子基因874T可能是再生障碍性贫血易感性基因之一。更多还原

【Abstract】 Objective:To investigate the relationship between the levels of Interferon IFN-r,IFN-r gene polymorphism and aplastic anemia.Methods:The level of plasma IFN-r was measured by ELISA,and PCR-SSP was used to detect the polymorphism of IFN-r 874T and 874A gene.Results:Level of IFN-r in study group(1.760±0.108)μg /L was significantly higher than the control group(0.721±0.065)μg /L,P<0.05;Frequencies of IFN-r 874T genotype in 33.33% of 36 patients and 10.0% of 40 controls were significantly higher than those in healthy controls(P< 0.05).Conclusion:The level of plasma IFN-r and IFN-r 874T Polymorphism increases in patients with AA.The differences between them have statistical significance;Our results indicate that the change of genic polymorphism of cytokine is correlated with AA.The predisposing IFN-r(+874T) genetic locus may be allelomorphic gene of AA.IFN-r genotype and T allele were significantly related to patients with AA.IFN-r genotype can have some function susceptibility to AA更多还原