Song E Y, Park M H, Kang S J, Park H J, Kim B C, Tokunaga K, Akaza T, Juji T
Seoul National University College of Medicine, Korea.
Tissue Antigens. 2002 Jun;59(6):475-86. doi: 10.1034/j.1399-0039.2002.590604.x.
We have investigated the distribution of HLA class II alleles and haplotypes in 107 Korean families (207 parents and 291 children) for the HLA-DRB1, DRB3/B4/B5, DQA1, DQB1 and DPB1 loci. Numbers of alleles observed for each locus were DRB1: 25, DQA1: 14, DQB1: 15, and DPB1: 13. Only two to three alleles were observed for the DRB3 (0101, 0202, 0301), DRB4 (0103, * 0103102 N), and DRB5 (0101, 0102) loci. These alleles showed strong associations with DRB1 alleles: DRB30101 with DRB11201, 1301 and 1403; DRB30301 with DRB11202 and 1302; DRB30202 with DRB10301, 1101, 1401 and 1405; DRB50101 and 0102 were exclusively associated with DRB11501 and 1502, respectively. The seven most common DRB1-DQB1 haplotypes of frequencies > 0.06 accounted for 52% of the total haplotypes. These haplotypes were exclusively related with the seven most common DRB1-DRB3/B4/B5-DQA1-DQB1 haplotypes: DRB11501-DRB50101-DQA10102-DQB10602 (0.085), DRB10405-DRB40103-DQA10303-DQB10401 (0.082), DRB109012-DRB40103-DQA10302-DQB103032 (0.082), DRB10101-DQA10101-DQB10501 (0.075), DRB10701-DRB40103-DQA10201-DQB10202 (0.065), DRB10803-DQA10103-DQB10601 (0.065), and DRB11302-DRB30301-DQA10102-DQB10604 (0.065). When these haplotypes were extended to the DPB1 locus, much diversification of haplotypes was observed and only one haplotype remained with a frequency of > 0.06: DRB10405-DRB40103-DQA10303-DQB10401-DPB10501 (0.062). Such diversification would have resulted from cumulated events of recombination within the HLA class II region, and the actual recombination rate observed between the HLA-DQB1 and DPB1 loci was 2.3% (10/438 informative meioses, including 2 recombinants informative by analysis of TAP genes). Comparison of the distribution of DRB1-DQB1 haplotypes with other populations revealed that Koreans are closest to Japanese people. However, Koreans share a few haplotypes with white people and Africans, which are rare in Japanese: DRB10701-DQB10202 and DRB11302-DQB1*0609. The results obtained in this study will provide useful information for anthropology, organ transplantation and disease association studies.
我们对107个韩国家庭（207名父母和291名子女）的HLA - II类等位基因和单倍型在HLA - DRB1、DRB3/B4/B5、DQA1、DQB1和DPB1基因座的分布情况进行了研究。每个基因座观察到的等位基因数量分别为：DRB1：25个，DQA1：14个，DQB1：15个，DPB1：13个。DRB3（0101、0202、0301）、DRB4（0103、0103102 N）和DRB5（0101、0102）基因座仅观察到两到三个等位基因。这些等位基因与DRB1等位基因表现出强关联：DRB30101与DRB11201、1301和1403；DRB30301与DRB11202和1302；DRB30202与DRB10301、1101、1401和1405；DRB50101和0102分别仅与DRB11501和1502相关联。频率>0.06的七种最常见的DRB1 - DQB1单倍型占总单倍型的52%。这些单倍型仅与七种最常见的DRB1 - DRB3/B4/B5 - DQA1 - DQB1单倍型相关：DRB11501 - DRB50101 - DQA10102 - DQB10602（0.085），DRB10405 - DRB40103 - DQA10303 - DQB10401（0.082），DRB109012 - DRB40103 - DQA10302 - DQB103032（0.082），DRB10101 - DQA10101 - DQB10501（0.075），DRB10701 - DRB40103 - DQA10201 - DQB10202（0.065），DRB10803 - DQA10103 - DQB10601（0.065），以及DRB11302 - DRB30301 - DQA10102 - DQB10604（0.065）。当这些单倍型扩展到DPB1基因座时，观察到单倍型有很大的多样性，只有一种单倍型频率>0.06：DRB10405 - DRB40103 - DQA10303 - DQB10401 - DPB10501（0.062）。这种多样性可能是由HLA - II类区域内重组的累积事件导致的，并且在HLA - DQB1和DPB1基因座之间观察到的实际重组率为2.3%（10/438个信息性减数分裂，包括通过TAP基因分析有信息的2个重组体）。将DRB1 - DQB1单倍型的分布与其他人群进行比较发现，韩国人与日本人最接近。然而，韩国人与白人和非洲人共享一些在日本人中罕见的单倍型：DRB10701 - DQB10202和DRB11302 - DQB10609。本研究获得的结果将为人类学、器官移植和疾病关联研究提供有用信息。
