中国汉族人群TIRAP基因编码区多态性与结核病易感性的相关性研究  

Research on the association of TIRAP coding region polymorphism with susceptibility to tuberculosis in Chinese Hall population

作　　者：李松[1,2] 车南颖[2] 丁志鑫[2] 张旭霞[2] 程君[2] 张林波[1] 时广利[3] 张洁[3] 王雪玉[3] 李传友[1] 

机构地区：[1]吉林农业大学生命科学学院,长春130000 [2]首都医科大学附属北京胸科医院细菌免疫学研究室,101149 [3]首都医科大学附属北京胸科医院检验科,101149

出　　处：《中华微生物学和免疫学杂志》2011年第6期502-506,共5页Chinese Journal of Microbiology and Immunology

摘　　要：目的筛选中国汉族人群Toll／白细胞介素1受体结构域衔接蛋白（TIRAP）基因编码区多态性位点，并分析其与结核病易感性的相关性。方法在小样本中测序筛选TIRAP基因编码区多态性位点，再用连接酶特异检测技术在大样本中进行单核苷酸多态性（SNP）分型，并通过统计学方法分析基因多态性与结核病易感性的相关性。结果共筛选到4个TIRAP基因编码区多态性位点。G394A位点在结核病病人中的突变频率高于健康人，但是该位点等位基因频率在两组人群中的差异没有统计学意义（P〉0．05）。G164A位点跟结核病病情有关，复治病人与健康人该位点等位基因差异具有统计学意义（P〈0．05），同时肺部形成空洞病人与菌阳病人突变率均比健康人要低。结论TIRAP基因编码区多态性可能是中国汉族人群结核病发生发展的危险因素。Objective To detect specific polymorphisms in Toll-interleukin 1 receptor domain containing adaptor protein（TIRAP） coding region for Chinese Han population, and verify whether they are associated with susceptibility to tuberculosis. Methods Search TIRAP polymorphisms by sequencing in small sample; detect single nucleotide polymorphism（SNP） by ligase detection reaction technique in large sample ; analyze whether polymorphisms are related to tuberculosis by statistic methods. Results Four poly- morphisms were present in the TIRAP coding region. 394A had higher frequencies in the tuberculosis（TB） group than the control. But allelic and genotypic analysis showed that there were no significant difference in statistic between TB patients and controls （P〉0.05）. The SNP G16dA mutation related with TB patient＇s condition. Comparing to controls, retreatment patients＇ allelic frequencies had significant difference in statistic（P〈0.05 ）, sputum positive patients and lung cavitation patients had lower 164A frequencies. Conclusion TIRAP coding region polymorphisms may be risk factors for TB occurrence and development in Chinese Han population.

关 键 词：结核病 Toll/白细胞介素1受体结构域衔接蛋白 易感性 单核苷酸多态性 

分 类 号：R52[医药卫生—内科学]