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- Weinberg平衡（χ2=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ALOX5 mRNA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。%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 enrol ed in the study. Polymerase chain reaction- single strand conforma-tion 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 al ergies and passive smoking were the risk factors for bronchial asthma in Han chil-dren (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 (χ2=0.361, P>0.05).The distributions of Al ele 4 and 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.
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