The introduction of next generation sequencing (NGS) for stem cell donor registry typing has contributed to faster identification of compatible stem cell donors. However, the successful search for a matched unrelated donor for some patient groups is still affected by their ethnicity. In this study, DNA samples from 714 National Health Service (NHS) Cord Blood Bank donors were typed for HLA-A, -B, -C, -DRB1, -DRB345, -DQA1, -DQB1, -DPA1 and -DPB1 by NGS. Analysis of the ethnic diversity showed a high level of diversity, with the cohort comprising of 62.3% European and 37.7% of either multi-ethnic or non-European donors, of which 12.3% were multi-ethnic. The HLA diversity was further confirmed using PyPop analysis, 405 distinct alleles were observed in the overall NHS-CBB cohort, of which 37 alleles are non-CWD, including A*31:14N, B*35:68:02, C*14:23 and DQA1*05:10. Furthermore, HLA-DQA1 and HLA-DPA1 analysis showed 12% and 10%, respectively, of the alleles currently submitted to IMGT, confirming further diversity of the NHS-CBB cohort. The application of 11 HLA loci resolution by NGS revealed a high level of diversity in the NHS-CBB cohort. The incorporation of this data coupled with ethnicity data could lead to improved donor selection, contributing to better clinical outcomes for patients.

中文翻译：

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11个HLA基因座的下一代测序表征了不同的英国脐带血库。

用于干细胞供体注册表分类的下一代测序（NGS）的引入有助于更快地鉴定出兼容的干细胞供体。但是，对于某些患者群体而言，成功寻找匹配的无关亲属供体仍然受到其种族的影响。在这项研究中，NGS对来自714个国家卫生服务（NHS）脐带血库供体的DNA样本进行了HLA-A，-B，-C，-DRB1，-DRB345，-DQA1，-DQB1，-DPA1和-DPB1的分型。对种族多样性的分析显示，多样性很高，该队列包括62.3％的欧洲人和37.7％的多种族或非欧洲捐助者，其中12.3％是多种族。使用PyPop分析进一步证实了HLA多样性，在整个NHS-CBB队列中观察到405个不同的等位基因，其中37个非CWD等位基因，包括A * 31：14N，B * 35：68：02，C * 14 ：23和DQA1 * 05：10。此外，HLA-DQA1和HLA-DPA1分析分别显示了目前提交给IMGT的等位基因的12％和10％，证实了NHS-CBB队列的进一步多样性。NGS对11个HLA基因座分辨率的应用揭示了NHS-CBB队列的高度多样性。将该数据与种族数据结合起来可以改善捐赠者的选择，从而为患者带来更好的临床结果。