Whang Dong Hee, Park Hyejin, Roh Eun Youn, Park Myoung Hee
Department of Laboratory Medicine, Inje University College of Medicine, Seoul Paik Hospital, Seoul, Korea.
Hum Immunol. 2005 Sep;66(9):998-1007. doi: 10.1016/j.humimm.2005.07.001. Epub 2005 Aug 16.
We have investigated the polymorphism of TAP genes and the distribution of human leukocyte antigen (HLA)-TAP haplotypes in 90 Korean families (180 parents and 233 children), previously typed for HLA class II alleles. TAP1 (codons 333 and 637) and TAP2 (codons 379, 565, 577, 651, 665, and 687) typings were carried out by use of polymerase chain reaction-restriction fragment length polymorphism method. For TAP1, four alleles (gene frequency: A 81.9%, B 15.0%, C 2.5%, D 0.5%) and for TAP2, nine alleles (A1 31.7%, A2 14.2%, B 32.5%, Bky2 6.1%, C 6.9%, D 2.5%, E 3.9%, G 0.8%, and H 1.4%) were detected. Sixteen different TAP1-TAP2 haplotypes were observed with frequencies > 0.5%, and we found that significant linkage disequilibrium was present between TAP1 and TAP2 loci (p < 0.001). When HLA-DRB1-DQB1 haplotypes were extended to TAP1 and TAP2 loci, much diversification of haplotypes was observed: 26 different DRB1-DQB1 haplotypes (frequencies > 0.8%) formed 90 different extended haplotypes. Eight recombinant haplotypes between DQB1 and DPB1 loci were observed, and most (seven of eight) of the recombinations occurred between TAP2 and DPB1 loci. These results add more evidence to the view that recombination hot spot is present within and around TAP gene region.
我们调查了90个韩国家庭（180名父母和233名子女）中TAP基因的多态性以及人类白细胞抗原（HLA）-TAP单倍型的分布情况，这些家庭之前已进行过HLA II类等位基因分型。采用聚合酶链反应-限制性片段长度多态性方法对TAP1（第333和637密码子）和TAP2（第379、565、577、651、665和687密码子）进行分型。对于TAP1，检测到四个等位基因（基因频率：A 81.9%、B 15.0%、C 2.5%、D 0.5%）；对于TAP2，检测到九个等位基因（A1 31.7%、A2 14.2%、B 32.5%、Bky2 6.1%、C 6.9%、D 2.5%、E 3.9%、G 0.8%、H 1.4%）。观察到16种不同的TAP1-TAP2单倍型，其频率>0.5%，并且我们发现TAP1和TAP2基因座之间存在显著的连锁不平衡（p<0.001）。当HLA-DRB1-DQB1单倍型扩展到TAP1和TAP2基因座时，观察到单倍型有更多样化：26种不同的DRB1-DQB1单倍型（频率>0.8%）形成了90种不同的扩展单倍型。在DQB1和DPB1基因座之间观察到八个重组单倍型，并且大多数（八个中的七个）重组发生在TAP2和DPB1基因座之间。这些结果为TAP基因区域内及周围存在重组热点这一观点提供了更多证据。
