HLA基因与各种自身免疫性病理有关,在器官和细胞移植中,免疫反应的控制也很重要。这项研究的目的是鉴定HLA-A,HLA-B,和HLA-C等位基因频率在分析的罗马尼亚队列。我们在罗马尼亚队列中使用下一代测序(NGS)进行HLA分型,以估计I类HLA等位基因频率达到六位数分辨率。来自国家自愿造血干细胞捐献者注册(RNDVCSH)的总共420名自愿捐献者被纳入HLA基因分型研究。在2020-2021年期间采集外周血样本并将其带到Fundeni临床研究所。使用ImmucorMiaForaNGSMFlex试剂盒进行HLA基因分型。在420份分析样本中检测到109个不同的等位基因,其中31个是HLA-A,HLA-B为49,HLA-C为29最常见的HLA-A等位基因是HLA-A*02:01:01(26.11%),HLA-A*01:01:01(12.5%),HLA-A*24:02:01(11.67%),HLA-A*03:01:01(9.72%),HLA-A*11:01:01和HLA-A*32:01:01(各8.6%)。对于HLA-B基因座,最常见的等位基因是HLA-B*18:01:01(11.25%),其次是HLA-B*51:01:01(10.83%)和HLA-B*08:01:01(7.78%)。最常见的HLA-C等位基因为HLA-C*07:01:01(17.36%),HLA-C*04:01:01(13.47%),和HLA-C*12:03:01(10.69%)。正在进行后续研究以确认检测结果。
The HLA genes are associated with various autoimmune pathologies, with the control of the immune response also being significant in organs and cells transplantation. The aim of the study is to identify the HLA-A, HLA-B, and HLA-C alleles frequencies in the analyzed Romanian cohort. We performed HLA typing using next-generation sequencing (NGS) in a Romanian cohort to estimate class I HLA allele frequencies up to a six-digit resolution. A total of 420 voluntary donors from the National Registry of Voluntary Hematopoietic Stem Cell Donors (RNDVCSH) were included in the study for HLA genotyping. Peripheral blood samples were taken and brought to the Fundeni Clinical Institute during 2020-2021. HLA genotyping was performed using the Immucor Mia Fora NGS MFlex kit. A total of 109 different alleles were detected in 420 analyzed samples, out of which 31 were for HLA-A, 49 for HLA-B, and 29 for HLA-C. The most frequent HLA-A alleles were HLA-A*02:01:01 (26.11%), HLA-A*01:01:01 (12.5%), HLA-A*24:02:01 (11.67%), HLA-A*03:01:01 (9.72%), HLA-A*11:01:01, and HLA-A*32:01:01 (each with 8.6%). For the HLA-B locus, the most frequent allele was HLA-B*18:01:01 (11.25%), followed by HLA-B*51:01:01 (10.83%) and HLA-B*08:01:01 (7.78%). The most common HLA-C alleles were HLA-C*07:01:01 (17.36%), HLA-C*04:01:01 (13.47%), and HLA-C*12:03:01 (10.69%). Follow-up studies are ongoing for confirming the detected results.