特应性皮炎患者IgE受体FcεRIα基因多态性研究

Polymorphisms of the high-affinity receptor for IgE alpha-chain （FcεRIα） gene in patients with atopic dermatitis

目的 探讨FcεRIα基因序列研究基因多态性与特应性皮炎的相关性.方法 提取特应性皮炎患者（97例）和正常人（283例）基因组DNA并进行扩增,通过高温连接酶检测法（PCR-LDR）测定FcεRIα基因远端启动子的序列,检测其SNP位点,并用SPSS软件进行统计处理.结果 ①FcεRIα基因启动子区rs61828219位点存在G＞T多态性,rs12135235位点为TT纯合子,rs36233780位点为AA纯合子.②特应性皮炎患者组和正常人对照组间的rs61828219位点基因突变频率分别为1.04%和2.17%,两组间差异无统计学意义（P＞0.05）.结论 汉族人FcεRIα基因rs61828219位点存在G＞T基因多态性,与特应性皮炎相关性不显著,s12135235位点和rs36233780位点不存在多态性.

Objective To assess the relationship between single nucleotide polymorphisms of FcεRIαgene and atopic dermatitis. Methods Genomic DNA samples were extracted from peripheral blood of 97 patients with atopic dermatitis and 283 normal human controls. The polymorphism at the distal promoter region of FcεRIα gene was determined by PCR-ligase detection reaction assay followed by gene sequencing. Results A G/T polymorphism was observed at position rs61828219 in the promoter region of FcεRIα gene, while all the tested individuals were homozygous for T/T at position rs12135235 and A/A at position rs36233780 in the promoter region of FcεRIα gene. The mutation frequency at position rs61828219 was 1.04% and 2.17% in patients with AD and normal human controls, respectively （both P ＞ 0.05）. Conclusions In the Chinese Han population, there is a G/T polymorphism at position rs61828219 in FcεRIα gene promoter region, which is unlikely related to the development of AD; however, no polymorphism is detected at position rs12135235 or rs36233780.