Uncommon HLA Alleles Observed in a Population of Istanbul Province

Yeliz Duvarcı Ogret; Rustu Oguz; Sedat Karadeniz; Hayriye Senturk Ciftci; Demet Kivanc; Fatma Savran Oguz

doi:10.58600/eurjther2163

Authors

Yeliz Duvarcı Ogret Department of Medical Biology, Istanbul University, Faculty of Medicine, Istanbul, Türkiye https://orcid.org/0000-0001-9732-5474
Rustu Oguz Department of Medical Biology and Genetic, TC Demiroglu Bilim University, Faculty of Medicine, Istanbul, Türkiye https://orcid.org/0000-0002-5854-1163
Sedat Karadeniz Graduate School of Science and Engineering, Kadir Has University, Istanbul, Türkiye https://orcid.org/0000-0002-1947-2484
Hayriye Senturk Ciftci Department of Medical Biology, Istanbul University, Faculty of Medicine, Istanbul, Türkiye https://orcid.org/0000-0003-3507-482X
Demet Kivanc Department of Medical Biology, Istanbul University, Faculty of Medicine, Istanbul, Türkiye https://orcid.org/0000-0002-2451-5709
Fatma Savran Oguz Department of Medical Biology, Istanbul University Medicine of Faculty Istanbul, Türkiye https://orcid.org/0000-0002-6018-8936

DOI:

https://doi.org/10.58600/eurjther2163

Keywords:

uncommon Human leukocyte antigen alleles,, Next generation sequencing, Sequencing Based Typing

Abstract

Objective: New polymorphisms are formed in human leucocyte antigen (HLA) genes with point mutations, gene conversions, and duplication, and the diversity continues to increase. Various new HLA alleles have significant roles in transplantation, and epidemiologic and population studies. The aim of our study was to determine the status of HLA alleles in the Turkish population, which is uncommon, well-defined, and non-defined in the world population according to the international ImMunoGeneTics information system® (IMGT) database.

Methods: We performed HLA-A, -B, -C, -DQB1, and DRB1 loci at the four-field resolution level, using Sanger- sequence-based typing (SBT) for 5592 healthy, unrelated bone marrow donor volunteers from Istanbul Province. The uncommon alleles were also confirmed using high-throughput next-generation sequencing (NGS).

Results: Uncommon alleles were determined at five loci as follows: HLA-A*01:155, 02:66, 02:90, 02:110, 02:343, 03:82, 24:28, 24:146, 24:276, 24:356, 31:23,33:33, 68:38; HLA-B *07:240, 18:19, 35:193, 40:303, 51:69, 51:169; HLA-C*04:39, 06:40, 07:93, 12:149, 15:73; HLA-DRB1*11:149, 13:14:02 and HLA-DQB1*03:27. All alleles were arranged according to the common and well‐documented (CWD) 3.0.0 catalog.

Conclusion: This is the first study to show uncommon alleles in our population. These reported data increase the knowledge of HLA polymorphisms in the Turkish population and provide a basis for further studies in population genetics. This information may also be useful in determining whether a matched, unrelated donor is unlikely to be found so that a mismatch strategy, an extended family search, or alternate therapy, can be pursued, thus saving time and cost for patients.

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