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首页> 外文期刊>International journal of immunogenetics >HLA-A, HLA-B and HLA-DRB1 allele and haplotype frequencies of 10918 Koreans from bone marrow donor registry in Korea
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HLA-A, HLA-B and HLA-DRB1 allele and haplotype frequencies of 10918 Koreans from bone marrow donor registry in Korea

机译：来自韩国骨髓供者登记处的10918名韩国人的HLA-A，HLA-B和HLA-DRB1等位基因和单倍型频率

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摘要

The human leucocyte antigen (HLA) system is the most polymorphic genetic system in humans, and HLA matching is crucial in organ transplantation, especially in hematopoietic stem cell transplantation. We investigated HLA-A, HLA-B and HLA-DRB1 allele and haplotype frequencies at allelic level in 10918 Koreans from bone marrow donor registry in Korea. Intermediate resolution HLA typing was performed using Luminex technology (Wakunaga, Japan), and additional allelic level typing was performed using PCR-single-strand conformation polymorphism method and/or sequence-based typing (Abbott Molecular, USA). Allele and haplotype frequencies were calculated by direct counting and maximum likelihood methods, respectively. A total of 39 HLA-A, 66 HLA-B and 47 HLA-DRB1 alleles were identified. High-frequency alleles found at a frequency of 5% were 6 HLA-A (A*02:01, *02:06, *11:01, *24:02, *31:01 and *33:03), 6 HLA-B (B*15:01, *35:01, *44:03, *51:01, 54:01 and *58:01) and 8 HLA-DRB1 (DRB1*01:01, *04:05, *04:06, *07:01, *08:03, *09:01, *13:02 and *15:01) alleles. At each locus, A*02, B*15 and DRB1*14 generic groups were mostdiverse at allelic level, consisting of 9, 12 and 11 different alleles, respectively. A total of 366, 197 and21 different HLA-A-B-DRB1 haplotypes were estimated with frequencies of 0.05%, 0.1% and 0.5%, respectively. The five most common haplotypes with frequencies of 2.0% were A*33:03-B*44:03-DRB1*13:02 (4.97%), A*33:03-B*58:01-DRB1*13:02, A*33:03-B*44:03-DRB1*07:01, A*24:02-B*07:02-DRB1*01:01 and A*24:02-B*52:01-DRB1*15:02. Among 34 serologic HLA-A-B-DR haplotypes with frequencies of 0.5%, 17 haplotypes revealed allele-level diversity and majority of the allelic variation was arising from A2, A26, B61, B62, DR4 and DR14 specificities. Haplotype diversity obtained in this study is the most comprehensive data thus far reported in Koreans, and the information will be useful for unrelated stem cell transplantation as well as for disease association studies.
机译：人类白细胞抗原（HLA）系统是人类中最多态的遗传系统，HLA匹配在器官移植中尤其是在造血干细胞移植中至关重要。我们从韩国骨髓供者登记处调查了10918名韩国人中等位基因水平的HLA-A，HLA-B和HLA-DRB1等位基因和单倍型频率。使用Luminex技术（日本Wakunaga，日本）进行中等分辨率HLA分型，并使用PCR单链构象多态性方法和/或基于序列的分型（Abbott Molecular，美国）进行其他等位基因水平分型。等位基因和单倍型频率分别通过直接计数和最大似然法计算。总共鉴定出39个HLA-A，66个HLA-B和47个HLA-DRB1等位基因。频率为5％的高频等位基因为6 HLA-A（A * 02：01，* 02：06，* 11：01，* 24：02，* 31：01和* 33：03），6 HLA-B（B * 15：01，* 35：01，* 44：03，* 51：01、54：01和* 58：01）和8个HLA-DRB1（DRB1 * 01：01，* 04：05 ，* 04：06，* 07：01，* 08：03，* 09：01，* 13：02和* 15：01）等位基因。在每个基因座上，A * 02，B * 15和DRB1 * 14通用组在等位基因水平上最多样化，分别由9、12和11个不同的等位基因组成。估计总共366、197和21种不同的HLA-A-B-DRB1单倍型，频率分别为0.05％，0.1％和0.5％。频率为2.0％的五个最常见单倍型为A * 33：03-B * 44：03-DRB1 * 13：02（4.97％），A * 33：03-B * 58：01-DRB1 * 13：02 ，A * 33：03-B * 44：03-DRB1 * 07：01，A * 24：02-B * 07：02-DRB1 * 01：01和A * 24：02-B * 52：01-DRB1 * 15：02在频率为0.5％的34种血清学HLA-A-B-DR单倍型中，有17种单倍型显示了等位基因水平的多样性，大多数等位基因变异是由A2，A26，B61，B62，DR4和DR14特异性引起的。在这项研究中获得的单倍型多样性是迄今为止韩国人报告的最全面的数据，该信息将对无关的干细胞移植以及疾病关联研究有用。

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