Immunogenetics and Histocompatibility Laboratory, Banc de Sang i Teixits, Barcelona, Spain.
Transfusional Medicine Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain.
HLA. 2019 Oct;94(4):347-359. doi: 10.1111/tan.13644. Epub 2019 Aug 6.
Allele-level HLA compatibility in cord blood transplantation has been associated with better transplant outcomes and is recommended as a selection criterion. It is also a crucial aspect for other therapeutic applications involving cord blood-derived cells. Determination of high-resolution HLA frequencies is an important step towards improving the quality of cord blood banks. We analyzed HLA-A, -B, -C, -DRB1, and -DQB1 allele frequencies in 5458 high-quality cord blood units from the Barcelona Cord Blood Bank and identified 275 class I and 121 class II HLA alleles. A02:01, B44:03, C07:01, DRB107:01 and DQB103:01 were the most frequent alleles at each locus. We detected 26 novel alleles and were able to determine the presence or absence of some null alleles, including C04:09N, in a large number of units. We also analyzed maternal HLA typing information for 1877 units to determine real haplotype frequencies and linkage disequilibrium. A29:02-B44:03-C16:01-DRB107:01-DQB1*02:02 was the most frequent HLA haplotype and the DRB1-DQB1 gene pair contained the two-locus haplotypes with the strongest linkage disequilibrium values. Four of the 11 unique haplotypes identified in the HLA-homozygous cord blood units were the top-ranking haplotypes identified and were present in 18% of the cohort. This is the first study to report on HLA allele and haplotype frequencies for umbilical cord blood units from the Barcelona Cord Blood Bank and the largest study to date involving two fields of HLA resolution typing of Spanish registry data.
在脐血移植中,等位基因水平的 HLA 相容性与更好的移植结果相关,因此被推荐作为选择标准。这也是涉及脐血衍生细胞的其他治疗应用的关键方面。确定高分辨率 HLA 频率是提高脐血库质量的重要步骤。我们分析了来自巴塞罗那脐血库的 5458 个高质量脐血单位的 HLA-A、-B、-C、-DRB1 和 -DQB1 等位基因频率,确定了 275 个 I 类和 121 个 II 类 HLA 等位基因。在每个基因座上,A02:01、B44:03、C07:01、DRB107:01 和 DQB103:01 是最常见的等位基因。我们检测到 26 个新等位基因,并能够确定一些缺失等位基因的存在或不存在,包括大量单位中的 C04:09N。我们还分析了 1877 个单位的母亲 HLA 分型信息,以确定真实的单倍型频率和连锁不平衡。A29:02-B44:03-C16:01-DRB107:01-DQB1*02:02 是最常见的 HLA 单倍型,DRB1-DQB1 基因对包含连锁不平衡值最强的两基因座单倍型。在 HLA 纯合脐血单位中确定的 11 个独特单倍型中有 4 个是排名最高的单倍型,占队列的 18%。这是第一项报告巴塞罗那脐血库脐血单位 HLA 等位基因和单倍型频率的研究,也是迄今为止涉及西班牙登记数据 HLA 分辨率分型两个领域的最大研究。