干扰素-r基因多态性与阵发性睡眠性血红蛋白尿的关联研究  

Study on plasma IFN-r and IFN-r Polymorphism in patients with paroxysmal nocturnal hemoglobinuria.

作　　者：梁红[1] 孙明艳[1] 魏负和[1] 靳明华[1] 

机构地区：[1]哈尔滨市第一医院哈尔滨市血液病研究所,哈尔滨150010

出　　处：《中国优生与遗传杂志》2009年第6期9-10,12,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨阵发性睡眠性血红蛋白尿(PNH)与干扰素-r基因(IFN-r)多态性基因多态性和IFN-r血中表达水平的相关性。旨在研究此基因多态性在PNH发病机制中的作用。方法对36例成人PNH患者和40例健康对照组外周血标本,采用序列特异性引物聚合酶链反应(PCR-SSP)技术,分别检测单个核细胞中的IFN-r基因多态性的变化。结果结果表明:PNH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PNH相关。结论我国北方地区汉族人IFN-r基因874A位点的多态性和血清IFN-r的蛋白表达水平显著升高,并在PNH的疾病病程中起重要作用,IFN-r启动子基因874T可能是PNH易感性基因之一。Objective： To investigate the relationship between the levels of Interferon - r （IFN -r）, IFN -r gene polymorphism and paroxysmal nocturnal hemoglobinuria. 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. 0）. Conclusion： The level of plasma IFN - r and IFN - r 874T Polymorphism increases in patients with PNH. The differences between them have statistical significance; Our results indicate that the change of genic polymorphism of cytokine is correlated with PNH. The predisposing IFN - r （ ＋ 874T） genetic locus may be allelomorphic gene of PNH. IFN - r genotype were significantly related to patients with PNH. IFN - r genotype can have some function susceptibility to PNH.

关 键 词：阵发性睡眠性血红蛋白尿 细胞因子 基因多态性 

分 类 号：R556.64[医药卫生—血液循环系统疾病]