NRAMP1基因3'UTR多态性与新疆维吾尔族人群结核病易感性的相关性研究

目的 研究人类自然抵抗相关巨噬细胞蛋白1(NRAMP1)基因3'UTR多态性与新疆维吾尔族人群结核病易感性的相关性.方法 选取新疆维吾尔族人群活动性结核病患者224例,正常对照225例,用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法对NRAMP1基因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NRAMP1基因3'UTR多态性与结核病易感性的相关性.结果 在新疆维吾尔族人群活动性结核病患者中3'UTR TGTG/TGTG基因型159例(71.1%),TGTG/TGTG缺失基因型56例(24.9%),TGTG缺失/TGTG缺失基因型9例(4.0%);正常对照TGTG/TGTG基因型则为185例(82.2%),TGTG/TGTG缺失基因型36例(16.0%),TGTG缺失/TGTG缺失基因型4例(1.8%).正常对照组TGTG/TGTG基因型频率明显高于结核患者(X2=7.94,P<0.01).研究发现TGTG的等位基因频率为0.87,TGTG缺失的等位基因频率为0.13.结论 在新疆维吾尔族人群中NRAMP1基因3'UTR多态性与结核病易感性有明显相关性.

Study on the association of 3'UTR polymorphisms of NRAMP1 gene with susceptibility to tuberculosis in Uighurs

Objective To determine whether 3'UTR polymorphisms of the NRAMP1 gene are as-sociated with tuberculosis in Uighurs. Methods 3'UTR polymorphisms of NRAMP1 gene were typed by PCR-RFLP among 224 patients with active tuberculosis and 225 healthy individuals. The relationship be-tween 3'UTR polymorphisms and susceptibility to tuberculosis was studied, and cases were grouped accord-ing to genotypes. Results In the tuberculosis patients, genotype TGTG/TGTG,TGTG/TGTG deleted, and TGTG deleted/TGTG deleted were observed in 159,56 and 9 cases respectively, while the genotypes of the healthy controls were TGTG/TGTG in 185, TGTG/TGTG deleted in 36 and TGTG deleted/TGTG deleted in 4 case. The frequency of the genotype TGTG/TGTG was found more often among controls than that in pa-tients (X2=7.94 ,P <0.01). The frequency of allele TGTG and the frequency of variant allele were 0.87 and 0.13 respectively. Conclusion 3'UTR polymorphisms of NRAMP1 gene are associated with suscepti-bility to tuberculosis in Uighurs.