儿童哮喘IgE高亲和力受体β链基因多态性分析  

Analysis of gene mutation for high affinity immunoglobulin E receptor chain in asthmatic children

作　　者：赵凯姝[1] 成焕吉[1] 乔红梅[1] 赵芳兴 孙明远[3] 付文永[1] 

机构地区：[1]吉林大学第一医院儿科,吉林长春130021 [2]长春市儿童医院 [3]长春客车厂职工医院

出　　处：《临床儿科杂志》2004年第12期794-797,共4页Journal of Clinical Pediatrics

摘　　要：目的研究儿童哮喘IgE高亲和力受体β链(FcεRI-β)基因多态性.方法采用扩增阻滞突变系统-聚合酶链式反应(ARMS-PCR)技术对151例哮喘儿童和105例健康对照儿童进行Fc ε RI-β基因第6外显子区I181L、V183L和第7外显子区E237G位点的多态性检测,分析其与儿童哮喘易感性的关系,并用酶免法检测血清总IgE水平及过敏原表型,研究上述3个编码区的基因型与表型的关系.结果 I181L突变与儿童哮喘有显著相关性(OR=2.00,95%CI=1.10～3.11),哮喘儿童及健康对照儿童均不存在V183L突变或突变率极低,E237G突变与儿童哮喘无显著相关性;I181L及E237G突变均与过敏原或血清总IgE水平增高无关.结论 FcεRI-β I181L基因突变是我国长春地区儿童哮喘的易感基因,但无足够证据证明FcεRI-β基因是儿童哮喘特应性的决定性基因.Objective To study the polymorphism of the high affinity immunoglobulin E receptor β cham(FcεRI-β in asthmatic children. Methods The coding variants of I181L and VI83L within exon six and that of E237G within ex-on seven were detected using amplification refractory mutation system-polymerase chain reaction(ARMS-PCR)in 151 asthmatic children and 105 normal controls,and the correlations among the three genetic variants and susceptibility of asthma in children were investigated. Serum total IgE levels and aeroallergens were tested with ELISA method,and the association of genotype and phenotype was analyzed. Results The coding variant of I181L had significant correlation with susceptibility of asthma in children. (OR=2.00,95%CI=1.10-3.11). V183L gene mutations were not found or almost absent in asthmatic children and normal controls. The coding variant of E237G had no association with susceptibility of asthma in children. The serum total IgE levels and aeroallergens were not correlated to I181L or E237G mutation. Conclusions FcεRI-β I181L gene mutation was a susceptible gene of asthmatic children in Changchun, but FcβRI-ε gene was not confirmed to be crucial to atopy.

关 键 词：哮喘 IgE高亲和力受体 遗传变异 儿童 

分 类 号：R725.6[医药卫生—儿科]