中华皮肤科杂志

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湘籍汉族特应性皮炎患者FcεRIβ基因启动子-109位基因多态性分析

文海泉, 周君, 梁云生   

  1. 长沙中南大学湘雅二医院皮肤科, 410011
  • 收稿日期:2005-10-24 出版日期:2006-04-15 发布日期:2006-04-15

The-109 polymorphism at the promoter region of high-affinity IgE receptor β gene in patients with atopic dermatitis in Han nationality in Hunan Province

WEN Hal-quart, ZHOU Juu, LIANG Yun-sheng   

  1. Derpartment of Dermatology, Second Xiangya Hospital, Central South University, Changsha 410011, China
  • Received:2005-10-24 Online:2006-04-15 Published:2006-04-15

摘要: 目的 探讨湘籍汉族特应性皮炎患者IgE高亲和力受体β链(FcεRIβ)基因启动子-109位基因多态性及与血清总IgE的关系。方法 采用PCR-单链构型多态性(SSCP),DNA测序分析FcεRIβ基因多态性,ELISA检测血清总IgE。结果 20例特应性皮炎患者中有4例FcεRIβ基因启动子-109位泳动异常,其中有2例特应性皮炎患者第138位碱基发生G→A替换,159位碱基发生T→C替换;2例患者165位碱基发生A→G替换。突变组特应性皮炎患者血清总的IgE为(1.88±1.30)mg/L,无突变组特应性皮炎患者血清总的IgE为(0.32±0.12)mg/L,正常人对照组血清总的IgE为(0.20±0.05)mg/L;突变组较无突变组及正常人对照组差异有统计学意义(P<0.05)。结论 特应性皮炎患者IgE高亲和力受体β链启动区-109位多态性伴有IgE高表达。

关键词: 皮炎, 特应性, 受体, IgE, 多态性, 单核苷酸, 突变, 免疫球蛋白E

Abstract: Objective To investigate the-109 polymorphism at the promoter region of high-affinity IgE receptorβ(FceR1β)gene and its relationship with serum IgE in patients with atopic dermatitis in Han nationality in Hunan Province,China.Methods DNA was obtained from 20 patients with atopic dermatitis and 20 healthy controls.The-109 polymorphism was detected by PCR-single strand conformation polymorphism (SSCP),and confirmed by direct sequencing.ELISA was applied to measure the serum total IgE.Results Three mutations were identified in 4 of the 20 patients,including a G138A mutation and a T159C mutation in 2 patients,as well as a A165G mutation in the other 2 patients.The level of serum total IgE was 1.88±1.30 mg/L in the 4 patients with mutations,which was significantly different(P<0.05) from that (0.32±0.12 mg/L)in the 16 patients without mutations and that(0.20±0.05 mg/L)in the healthy controls.Conclusion The-109 polymorphism at the promoter region of FceRIβgene may be associated with the increase of serum IgE level.

Key words: Dermatitis, atopic, Receptors, IgE, Polymorphism, single nucleotide, Mutation, Immunoglobulin E