High-Resolution HLA-DRB1 Allele Frequencies in a Romanian Cohort of Stem Cell Donors.

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI:10.2478/bjmg-2024-0009
M A Caragea, I R Ursu, D L Visan, I Maruntelu, P Iordache, A Constantinescu, M Tizu, A Tălăngescu, I Constantinescu
{"title":"High-Resolution HLA-DRB1 Allele Frequencies in a Romanian Cohort of Stem Cell Donors.","authors":"M A Caragea, I R Ursu, D L Visan, I Maruntelu, P Iordache, A Constantinescu, M Tizu, A Tălăngescu, I Constantinescu","doi":"10.2478/bjmg-2024-0009","DOIUrl":null,"url":null,"abstract":"<p><p>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 DRB1*16:01:01 (12.6%), DRB1*11:04:01 (12.1%) and DRB1*03:01:01 (12%). The HLA-DRB1*11:01:02 and -DRB1*08:04:01, -DRB1*05:01:01, -DRB1*13:05:01, -DRB1*14:07:01, -DRB1*09:01:02, -DRB1*11:02:01, -DRB1*04:07:01, -DRB1*15:03:01, -DRB1*03:02:01, -DRB1*04:06:02, -DRB1*04:08:01, -DRB1*14:05:01 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.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"27 1","pages":"43-49"},"PeriodicalIF":0.5000,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11385019/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Balkan Journal of Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2478/bjmg-2024-0009","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

Abstract

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 DRB1*16:01:01 (12.6%), DRB1*11:04:01 (12.1%) and DRB1*03:01:01 (12%). The HLA-DRB1*11:01:02 and -DRB1*08:04:01, -DRB1*05:01:01, -DRB1*13:05:01, -DRB1*14:07:01, -DRB1*09:01:02, -DRB1*11:02:01, -DRB1*04:07:01, -DRB1*15:03:01, -DRB1*03:02:01, -DRB1*04:06:02, -DRB1*04:08:01, -DRB1*14:05:01 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.

罗马尼亚干细胞捐献者队列中的高分辨率 HLA-DRB1 等位基因频率。
本研究的目的是确定所分析的罗马尼亚健康干细胞捐献者队列中 HLA-DRB1 等位基因的高分辨率频率。利用下一代测序技术(NGS),我们通过对罗马尼亚健康人群进行 HLA 分型,估算出了 6 位数分辨率的 II 类 HLA-DRB1 等位基因频率。HLA 基因分型研究包括来自国家自愿造血干细胞捐献者登记处(RNDVCSH)的 420 名自愿捐献者。2020 年和 2021 年,我们采集了外周血样本并将其运送到 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 DRB1*16:01:01 (12.6%)、DRB1*11:04:01 (12.1%) 和 DRB1*03:01:01 (12%)。HLA-DRB1*11:01:02、-DRB1*08:04:01、-DRB1*05:01:01、-DRB1*13:05:01、-DRB1*14:07:01、-DRB1*09:01:02、-DRB1*11:02:01、-DRB1*04:07:01、-DRB1*15:03:01、-DRB1*03:02:01、-DRB1*04:06:02、-DRB1*04:08:01、-DRB1*14:05:01仅被识别一次。研究结果显示,罗马尼亚与东欧、巴尔干和高加索地区的国家有相似之处。要证实目前的结果,还需要对更大规模的罗马尼亚队列进行进一步研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信