
HIGH-RESOLUTION HLA-DRB1 ALLELE FREQUENCIES IN A ROMANIAN COHORT OF STEM CELL DONORS Caragea лю, Ursu IR, Visan DL, Maruntelu I, Iordache P, Constantinescu A, Tizu M, Tălăngescu A, Constantinescu I *Corresponding Author: Lect., MD, PhD Radu-Ioan Ursu, Carol Davila University of Medicine and
Pharmacy, Department of Medical Genetics, Bucharest, Romania, Str. Batistei 12, Bucharest, Romania; tel.: 0040736167020; e-mail: dr.radu.ursu@gmail.com page: 43 download article in pdf format
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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 Do-
nors (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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