Caragea M A, Ursu I R, Visan D L, Maruntelu I, Iordache P, Constantinescu A, Tizu M, Tălăngescu A, Constantinescu I
Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Center for Immunogenetics and Virology, Fundeni Clinical Institute, Bucharest, Romania.
Balkan J Med Genet. 2024 Sep 6;27(1):43-49. doi: 10.2478/bjmg-2024-0009. eCollection 2024 Jun.
The goal of the current study was to determine the high-resolution frequencies of the HLA-DRB1 alleles among the analyzed Romanian cohort of healthy stem cell donors. Using Next Generation Sequencing (NGS), we estimated class II HLA-DRB1 allele frequencies to a 6-digit resolution through HLA typing in a Romanian cohort of healthy individuals. The study for HLA genotyping included 420 willing donors from the National Registry of Voluntary Hematopoietic Stem Cell Donors (RNDVCSH). In 2020 and 2021, peripheral blood samples were collected and transported to the Fundeni Clinical Institute. We used the Immucor Mia Fora NGS MFlex kit for HLA genotyping. Forty-one different alleles were detected in 420 analyzed samples, out of which the most frequent HLA-DRB1 alleles were DRB116:01:01 (12.6%), DRB111:04:01 (12.1%) and DRB103:01:01 (12%). The HLA-DRB111:01:02 and -DRB108:04:01, -DRB105:01:01, -DRB113:05:01, -DRB114:07:01, -DRB109:01:02, -DRB111:02:01, -DRB104:07:01, -DRB115:03:01, -DRB103:02:01, -DRB104:06:02, -DRB104:08:01, -DRB114:05:01 were identified only once. The results revealed similarities with countries belonging to the Eastern Europe, the Balkans and the Caucasus regions. Further studies on larger Romanian cohorts are needed for confirming the current results.
本研究的目的是确定在经过分析的罗马尼亚健康干细胞供者队列中HLA - DRB1等位基因的高分辨率频率。通过下一代测序（NGS），我们在罗马尼亚健康个体队列中进行HLA分型，将II类HLA - DRB1等位基因频率估计到6位分辨率。HLA基因分型研究纳入了来自国家自愿造血干细胞供者登记处（RNDVCSH）的420名自愿供者。在2020年和2021年，采集外周血样本并运至Fundeni临床研究所。我们使用Immucor Mia Fora NGS MFlex试剂盒进行HLA基因分型。在420份分析样本中检测到41种不同的等位基因，其中最常见的HLA - DRB1等位基因是DRB116:01:01（12.6%）、DRB111:04:01（12.1%）和DRB103:01:01（12%）。HLA - DRB111:01:02、- DRB108:04:01、- DRB105:01:01、- DRB113:05:01、- DRB114:07:01、- DRB109:01:02、- DRB111:02:01、- DRB104:07:01、- DRB115:03:01、- DRB103:02:01、- DRB104:06:02、- DRB104:08:01、- DRB114:05:01仅被鉴定出一次。结果显示与东欧、巴尔干和高加索地区的国家存在相似性。需要对更大规模的罗马尼亚队列进行进一步研究以证实当前结果。
