人类白细胞抗原-DRB1基因启动子区序列多态性与肺结核的相关性分析

Association between polymorphism of HLA-DRB1 gene promoter region and pulmonary tuberculosis

目的探讨中国北方地区人群人类白细胞抗原（HLA）-DRB1基因启动子区序列多态性与肺结核的相关性。方法北方汉族肺结核患者97例为肺结核组，北方汉族健康人62例为对照组，采用PCR-SSP法对2组的HLA-DRB1基因启动子区进行PCR扩增，启动子区扩增产物直接测序。结果肺结核组和对照组的HLA-DRB1基因启动子区序列完全一致；对照组启动子区序列与数据库检索的序列比较有3个突变点：-26位的T被C替代，-49位的C被G替代，-78位的C被G替代。结论中国北方地区人群HLA-DRB1基因启动子区序列具有多态性，但此多态性与肺结核的发病没有相关性。

Objective To analyze the association between gene sequences of HLA-DRB1 promoter region and pulmonary tuberculosis among Chinese people. Methods PCR/SSP was performed to amplify the promoter region of pulmonary tuberculosis group and control group,and the PCR production were used for PCR direct sequencing. Results The pulmonary tuberculosis group had the same HLA-DRB1 promoter sequences as control group. Compared with those published in nucleotide database in network, the promoter sequences of control group had three mutation points：T in position -26 was replaced by C, C in position -49 was replaced by G, C in position -78 was replaced by G. Conclusion The HLA-DRB1 promoter sequences of Chinese people had polymorphism,but the polymorphism had no association with the development of pulmonary tuberculosis.