【摘要】 目的探讨ALOX5基因启动子SP-1结合位点多态性和汉族儿童支气管哮喘发生的关联。方法选取88例支气管哮喘儿童为病例组,124例健康儿童为对照组。用聚合酶链反应-单链构象多态性(PCR-SSCP)分析ALOX5基因启动子SP-1结合位点多态性,采用实时荧光逆转PCR检测病例组和对照组ALOX5各基因型儿童外周血ALOX5 mRNA表达量。结果临床资料显示有家族史、非母乳喂养、有过敏史和被动吸烟与儿童支气管哮喘发病相关(P<0.05),性别、年龄差异无统计学意义(P>0.05)。经PCR-SSCP鉴定ALOX5有6种基因型,包括4/4、4/5、4/6、5/5、5/6和6/6;ALOX5基因多态性在汉族儿童中分布符合Hardy-Weirberg平衡(X~2=0.361,P>0.05)。等位基因4及基因型(4/4+4/5)在病例组和对照组中分布差异均有统计学意义(均P<0.05)。健康儿童ALOX5 mRNA表达量(0.20±0.14)显著低于哮喘儿童(0.28±0.15)(P<0.05);基因型(4/4+4/5)个体ALOX5mRNA表达量高于基因型(5/5+5/6)个体(P<0.05),其余各基因型组间差异均无统计学意义(均P>0.05)。结论 ALOX5基因启动子SP-1结合位点多态性可能与汉族儿童支气管哮喘相关,该位点调控ALOX5 mRNA表达。更多还原

【Abstract】 Objective To investigate the association between polymorphism of SP-1 binding motif in ALOX5 promoter and bronchial asthma susceptibility in Chinese Han children.Methods Eighty-nine children with bronchial asthma(case group) and 124 healthy children(control group) were enrolled in the study.Polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) were applied to detect the polymorphism of ALOX5.Expression ALOX5 mRNA in peripheral blood was analyzed by real-time PCR in different genotypes of case and control groups.Results Clinical data revealed that family history,non-breastfeeding,history of allergies and passive smoking were the risk factors for bronchial asthma in Han children(P<0.05).Six genotypes of ALOX5 were identified by PCR-SSCP,including 4/4,4/5,4/6,5/5,5/6 and 6/6 genotypes.ALOX5 polymorphism in Han children was fitted with Hardy-Weinberg balance(x:= 0.361,P >0.05).The distributions of Allele 4and genotypes(4/4 +4/5) in the case and control groups showed significant differences(P<0.05).Relative expression levels of ALOX5 mRNA in healthy children(0.20 ± 0.14) was significantly lower than that in asthmatic children(0.28 ± 0.15)(P<0.05).The expression level of ALOX5 mRNA in genotypes(4/4 +4/5) individuals was higher than those in genotypes(5/5 +5/6)(P<0.05).Conclusion The polymorphism of SP-1 binding motif in ALOX5 promoter may be associated with the occurrence of bronchial asthma in Chinese Han children,which modulates ALOX5 mRNA expression.更多还原