中文摘要：

为了研究人类自然抵抗相关巨噬细胞蛋白NRAMP1基因3′UTR多态性与新疆哈萨克族结核病易感性的关系，研究选取新疆哈萨克族活动性结核病患者213例．新疆哈萨克族正常对照者211人，用聚合酶链反应一限制性片断长度多态性（PCR-RFIP）分析的方法对NRAMP1基因3′UTR多态性进行基因分型．比较不同基因型及等位基因的频率．经统计学分析．探讨懈AMP1基因3′UTR多态性与新疆哈萨克族结核病易感性的关系．结果显示，在新疆哈萨克族活动性结核病患者组中NRAMP1基因3′UTR TGTG＋／TGTG＋基因型138例（64．8％），TGTG＋／del基因型63例（29．6％），del／del基因型12例（5．6％）；新疆哈萨克族正常对照组TGTG＋／TCTG＋基因型则为167例（79．1％），TGTG＋／del基因型41例（19．5％），del，del基因型3例（1-4％）．新疆哈萨克族结核病患者组TGTG＋／del基因型和del／del基因型频率明显高于新疆哈萨克族正常对照组．差异有统计学意义（X^2=10．8，P〈0．01）；在新疆哈萨克族结核病患者组的TGTG＋等住基因频率为79．6％，del等位基因频率为20.4％，新疆哈萨克族正常对照组中TGTG＋和del等位基因频率分别为88．9％和11．1％，del等位基因在新疆哈萨克族结核病患者组中的分布频率高，差异有统计学意义（X^2=13．7，P〈0．01）．研究结果提示TGTG缺失等位基因可能是新疆哈萨克族结核病的易感基因，携带TGTG＋／del和del／del基因型的新疆哈萨克族人群可能更易患结核病．

英文摘要：

To determine whether 3′UTR polymorphisms of NRAMP1 gene are asocciated with tuberculosis in Hazakhs of Xinjiang, 3′ UTR polymorphisms of NRAMP1 gene was typed by PCR-RLFP（polymerase chain reaction-restriction fragment length polymorphisms） among 213 patients with active tuberculosis in Hazakhs of Xinjiang and 211 healthy individuals in Hazakhs of Xinjiang. The relationship of 3′UTR polymorphisms and susceptibility to tuberculosis was studied. Results showed that the genotype TGTG＋/ TGTG＋, TGTG＋/del and del/del were observed in 138, 63 and 12 cases among tuberculosis group while in 167, 41 and 3 cases among control group. The frequency of genotype TGTG＋/del and del/del were found more often among patients than that in controls （X^2=10.8, P〈0.01）. The TGTG＋ and del allele frequencies were 0.796, 0.204 respectively in tuberculosis group and 0.889, 0.111 in normal group. The allele frequencies of del were statisticly significant in tuberculosis group compared with the control group （X^2=13.7, P〈0.01 ） in Hazakhs of Xinjiang. The TGTGdel allele may be a risk factor for the tuberculosis of Hazakhs in Xinjiang and the Hazakhs carrying TGTG ＋/del and del/del genotype are apt to suffer tuberculosis.