Kuwata S, Yanagisawa M, Saeki H, Nakagawa H, Etoh T, Tokunaga K, Juji T, Shibata Y
Department of Transfusion Medicine and Immunohematology, Faculty of Medicine, University of Tokyo.
J Allergy Clin Immunol. 1994 Sep;94(3 Pt 2):565-74. doi: 10.1016/0091-6749(94)90132-5.
We investigated polymorphisms of transporter associated with antigen process (TAP) genes in atopic dermatitis. We developed a polymerase chain reaction-restriction fragment length polymorphism method for discriminating TAP alleles. Genomic DNA was obtained from 29 Japanese patients with atopic dermatitis and 35 control subjects. Dimorphic regions of TAP1 and TAP2 genes were amplified by polymerase chain reaction. Amplified products were digested with restriction endonucleases to determine TAP alleles: Sau3A1 for TAP1 codon 333 (Ile-Val), AccI for TAP1 codon 637 (Asp-Gly), and EcoRII for TAP2 codon 687 (Gln-Stop). We observed four alleles for TAP1 and dimorphism for TAP2 codon 687. Six of 35 controls had the TAP1 D allele, which has been reported to be a rare allele in Caucasian populations. Gene frequency of TAP1 637Asp exhibited a tendency to increase in the patients with atopic dermatitis. TAP1 637Asp and TAP1 A alleles were estimated to constitute a haplotype with DRB1* 1302-DQB10604 and DRB10803-DQB1*0601 in the Japanese population. Because TAP1 and TAP2 genes are located between HLA-DQB1 and -DPB1 loci, analysis of TAP gene polymorphisms will be useful for a better understanding of susceptibility loci in HLA class II-associated disease.
我们研究了特应性皮炎中与抗原加工相关的转运体(TAP)基因的多态性。我们开发了一种聚合酶链反应-限制性片段长度多态性方法来鉴别TAP等位基因。从29名日本特应性皮炎患者和35名对照受试者中获取基因组DNA。通过聚合酶链反应扩增TAP1和TAP2基因的双态区域。用限制性内切酶消化扩增产物以确定TAP等位基因:TAP1密码子333(异亮氨酸-缬氨酸)用Sau3A1,TAP1密码子637(天冬氨酸-甘氨酸)用AccI,TAP2密码子687(谷氨酰胺-终止密码子)用EcoRII。我们观察到TAP1有四个等位基因,TAP2密码子687存在双态性。35名对照中有6人具有TAP1 D等位基因,据报道该等位基因在白种人群体中是罕见等位基因。特应性皮炎患者中TAP1 637天冬氨酸的基因频率有增加趋势。在日本人群中,TAP1 637天冬氨酸和TAP1 A等位基因估计与DRB11302-DQB10604和DRB10803-DQB10601构成单倍型。由于TAP1和TAP2基因位于HLA-DQB1和-DPB1基因座之间,分析TAP基因多态性将有助于更好地理解HLA II类相关疾病的易感基因座。