HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype frequencies in the Serbian population

Abstract

This study provides the first published detailed analysis of five loci polymorphisms as well as reports of two, three and five loci haplotype frequencies in the Serbian population in a sample of 1992 volunteer bone marrow donors recruited from different part of the country. Typing was performed by PCR SSO method combined with PCR SSP techniques to resolve ambiguities. In total, 16 HLA-A, 28 HLA-B, 14 HLA-C, 13 HLA-DRB1 and 5 HLA-DQB1 allelic groups were identified. The most frequent in allele groups are HLA-A∗02 (29.5%), HLA-A∗01 (14.2%), HLA-B∗35 (13.1%), HLA-B∗51 (12.8%), HLA-C∗07 (24.8%), HLA-DRB1∗11 (16.9%), HLA-DRB1∗13 (13.2%), HLA-DQB1∗03 (33.3%) and DQB1∗05 (33.0%). The most frequent three- and five-loci haplotypes were A∗01-B∗08-DRB1∗03 (5.9%) and A∗02-B∗18-DRB1∗11 (1.9%), A∗01-B∗08-C∗07-DRB1∗03-DQB1∗02 (6.6%) followed by A∗02-B∗18-C∗07-DRB1∗11-DQB1∗03 (2.5%), then A∗33-B∗14-C∗08-DRB1∗01-DQB1∗05 and A∗02-B∗35-C∗04-DRB1∗16-DQB1∗05 (2.2% both), respectively. The results of cluster analysis showed that the Serbian population is closely related to the populations living in central Balkan and neighboring European regions. The level of allelic diversity found in this study are relevant to facilitate searching for unrelated matched donor and provide a healthy control population from our region that should be useful in the future disease association study.