Naslov
Detection of novel and confirmation of very rare and rare HLA alleles by next generation sequencing in Croatia

Autori
Burek Kamenaric, Marija ; Maskalan, Marija ; Grubic, Zorana ; Stingl Jankovic, Katarina ; Zunec, Renata

Izvornik
HLA (2059-2302) 2020 (2020); 1-6

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Croatia, HLA haplotypes, NGS, novel HLA alleles, very rare HLA alleles

Sažetak
Routine HLA typing in clinical practice encompassing solid organ and hematopoietic stem cells transplantation programs, disease association typing, volunteer marrow donor typing and population studies, provided a large dataset for studying HLA allele polymorphism in the Croatian population which led to the identification of new, very rare and rare HLA alleles. Over the last 4 years we have identified six new HLA alleles (HLA-A*01:200, A*02:836, A*11:01:01:44, B*08:251, B*18:169 and C*05:46:01:02) and a number of very rare (HLA-B*08:78, DRB1*12:39, DRB1*13:23:02 and DQB1*06:09:04) or rare (HLA-A*24:41, B*39:40:01N, B*51:78:01, DRB1*01:31 and DRB1*14:111) alleles using sequence-based typing methods. The reported data enhance the knowledge about HLA polymorphisms in the Croatian population and provide a foundation for further studies in population genetics.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Kliničke medicinske znanosti

POVEZANOST RADA