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目的 研究NRAMP1基因3’UTR多态性与汉族结核病易感性的关系。方法 选取汉族活动性结核病患者147例,正常对照145例,用PCR-RFLP(polymerase chain reaction-restrictionfragment length polymorphisms)的方法对NRAMP1因基3’UTR进行基因分型,根据基因型对样本分组,经统计学处理,研究3’UTR多态性与结核病易感性的关系。结果 在活动性结核病患者中3’UTR TGTG/TGTG基因型95例(64.6％),TGTG/TGTG缺失基因型50例(34.0％),TGTG缺失/TGTG缺失基因型2例(1.4％),正常对照TGTG/TGTG基因型则为115 例(79.3％),TGTG/TGTG缺失基因型29例(20％),TGTG缺失/TGTG缺失基因型1例(0.7％)。正常对照组TGTG/TGTG基因型明显高于结核病患者(x2=7.79;P<0.01)。研究发现TGTG的等位基因频率为0.85,TGTG缺失的等位基因频率为O.15。结论 NRAMP1基因3’UTR多态性可能与结核病易感性相关,汉族3’UTRTGTG缺失等位基因频率明显高于白种人,可能部分解释汉族比白种人更易患结核病。
Objective To investigate the relationship between 3’UTR polymorphism of NRAMP1 gene and the susceptibility to Han Chinese tuberculosis. Methods A total of 147 Han patients with active tuberculosis and 145 normal controls were enrolled. Genotypes of NRAMP1 3’UTR were genotyped by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) Statistical analysis of 3’UTR polymorphism and the relationship between susceptibility to tuberculosis. Results 95 cases (64.6%) of 3’UTR TGTG / TGTG genotypes in active TB patients, 50 cases (34.0%) of TGTG / TGTG deletion genotypes, 2 cases of TGTG deletion / TGTG deletion genotypes (1.4% The control TGTG / TGTG genotype was 115 (79.3%), TGTG / TGTG deletion genotype 29 (20%), TGTG deletion / TGTG deletion genotype 1 (0.7%). The TGTG / TGTG genotype in the normal control group was significantly higher than that in the tuberculosis patients (x2 = 7.79; P <0.01). The study found that TGTG allele frequency was 0.85, TGTG deletion allele frequency was O.15. CONCLUSION: The 3’UTR polymorphism of NRAMP1 gene may be associated with susceptibility to tuberculosis. Han allele frequency of 3’UTRTGTG deletion was significantly higher than that of Caucasians, which may partly explain that Han people are more susceptible to tuberculosis than Caucasians.