再生障碍性贫血IFN-γ基因＋874位点的单核苷酸多态性  

Single Nucleotide Polymorphism of Interferon-gamma Gene +874 T/A in Patients with Aplastic Anemia

作　　者：常红[1] 张家友[1] 孟文彤 

机构地区：[1]四川大学华西医院血液科 [2]血液遗传实验室,四川成都610041

出　　处：《中国实验血液学杂志》2008年第2期325-327,共3页Journal of Experimental Hematology

基　　金：四川省科技厅基金(批准号05SG022-018-5)资助

摘　　要：本研究采用扩增不应突变系统(amplification refractory mutation system,ARMS)-PCR对51名健康者和54例再生障性贫血患者IFN-γ基因+874位点单核苷酸多态性进行检测,旨在探讨再生障碍性贫血患者的遗传易感因素。结果表明,再生障碍性贫血患者IFN-γ+874位点TT基因型及T等位基因分布频率分别为42.6%与65.7%,显著高于健康对照组中的17.6%与39.2%(χ2=13.780,p=0.01;χ2=14.811,p<0.001)。结论:IFN-γ+874A/T基因多态性可能与再生障碍性贫血患者的遗传易感性相关。IFN-γ+874位点单核苷酸多态性与再生障碍性贫血的病情严重程度没有相关性。The aim of this study was to investigate whether the single nucleotide polymorphism （SNP） of interferon- gamma （IFN-γ） ＋ 874 T/A correlates with aplastic anemia. Amplification refractory mutation system-polymerase chain reaction was used to amplify the polymorphism gene segment of IFN-γ ＋ 874 A/T from 54 aplastic anemia patients and 51 healthy adults, The results showed that the frequency of IFN-γ ＋ 874 TT genotype and T allele was significantly higher in patients with aplastic anemia than that in the healthy adults （42.6% vs 17.6%, Χ^2 = 13.780,p =0.01 ; 65.7% vs 39.2% ; Χ^2 = 14. 811 ,p 〈 0. 001 ）. In conclusion, IFN-γ ＋ 874 A/T gene polymorphism is correlated with the susceptibility of aplastic anemia, but not significantly correlated with the the severity of aplastic anemia.

关 键 词：干扰素-Γ 单核苷酸多态性 再生障碍性贫血 

分 类 号：R556.5[医药卫生—血液循环系统疾病]