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。

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

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引用次数: 0

摘要

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。

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

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.

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来源期刊

Balkan Journal of Medical Genetics 医学-遗传学

CiteScore

1.00

自引率

0.00%

发文量

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.