藏族肺结核患者140例的溶质转运蛋白家族11成员1基因单倍型研究

目的 研究溶质转运蛋白家族11成员1(SLC11AI)基因单倍型与中国藏族人群肺结核易感性的关系.方法 2004年6月至2005年1月选取藏族肺结核患者140例,感染MTB未发病的藏族对照139例,用变性高效液相色谱检测和PCR限制性片段长度多态性分析方法对SLC11A基因4种多态性[5'(GT)n、INT4、D53N和3'UTR]进行基因分型,用SHESIS软件进行连锁不平衡与单倍型分析,以X2检验研究基因单倍型与肺结核易感性的关系.结果 病例组5'(CT)9/INT4 G单倍型频率(181/280,64.8%)显著低于对照组(217/276,78.1%),差异有统计学意义(X2=11.026,P<0.01);病例组3['UTR TGTG/D543N G单倍型频率(215/280,76.6%)显著低于对照组(235/276,84.4%),差异有统计学意义(X2:6.547,P<0.05);3'UTR TGTG缺失/D543N A单倍型频率(34/280,12.0%)显著高于对照组(18/276,6.4%),差异有统计学意义(X2=6.547,P<0.05).结论 SL11AI摹闪中5'(GT)/INT4 G、3'UTR TGTG/D543N G及其3'UTR TGTG缺失/D543N A单倍型与中国藏族人群肺结核易感性有关.

A study on the haplotype of the solute carrier family 11 member 1 gene in Tibetan patients with pulmonary tuberculosis in China

Objective To investigate the association of the haplotype of the solute carrier family 11 member 1 (SLC11AI) gene with susceptibility to pulmonary tuberculosis in Tibetans.Methods Four polymorphisms of the SLC11AI gene [5'(GT)n,INT4,D53N,and 3' UTR]were investigated by denaturalization high performance liquid chromatography and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 140 patients (the patient group) and 139 PPD-positive healthy controls (the control group) of the Tibetan nationality from June 2004 until January 2005.The relationship between the haplotype and susceptibility to pulmonary tuberculosis in these patients was studied by X2 test,and the linkage disequilibrium as well as the haplotype were analyzed by the SHESIS software.Results The haplotype frequencies of 5'(GT)9/INT4 G,3'UTR TGTG/D543N G,3'UTR TGTG del/D543N A were 64.8% (181/280),76.6% (215/280),12.0% (34/280) among the patients and 78.1% (217/276),84.4% (235/276),6.4% (18/276) among the controls.5' (GT)9/INT4 G,3' UTR TGTG/D543N G haplotypes rendered a lower risk (X2 = 11.026,P < 0.01,X2 = 6.547,P < 0.05,respectively),but 3'UTR TGTG del/D543N A haplotype a higher risk (X2 = 6.547,P < 0.05) for tuberculosis.Conclusions 5' (GT)9/INT4 G,3'UTR TGTG/D543N G and 3'UTR TGTG del/D543N A haplotypes of the SLC11AI genemay be associated with the susceptibility of the Tibetan population to pulmonary tuberculosis.