CAJ | 학술논문

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.
목적 탐토FcεRIα기인서렬연구기인다태성여특응성피염적상관성.방법 제취특응성피염환자(97례)화정상인(283례)기인조DNA병진행확증,통과고온련접매검측법(PCR-LDR)측정FcεRIα기인원단계동자적서렬,검측기SNP위점,병용SPSS연건진행통계처리.결과 ①FcεRIα기인계동자구rs61828219위점존재G＞T다태성,rs12135235위점위TT순합자,rs36233780위점위AA순합자.②특응성피염환자조화정상인대조조간적rs61828219위점기인돌변빈솔분별위1.04%화2.17%,량조간차이무통계학의의(P＞0.05).결론 한족인FcεRIα기인rs61828219위점존재G＞T기인다태성,여특응성피염상관성불현저,s12135235위점화rs36233780위점불존재다태성.
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.