GENETIC CHARACTERISTICS OF THE POPULATION LIVING IN THE TERRITORY OF THE REPUBLIC OF BASHKORTOSTAN

Abstract

Sequence based typing was used to identify human leukocyte antigen (HLA)-A, -B, -C, -DRB1 alleles in 1,064 recruited volunteers in the Republic of Bashkortostan of the Russian Federation for unrelated hematopoietic stem cell registry. During the carried out research two new alleles were identified in the studied population; one was registered in the WHO Nomenclature Committee for Factors of the HLA System, the other one was submitted for registration. In this population 17 HLA-A, 29 – HLA-B, 13 – HLA-C, 13 – HLA-DRB1 groups of alleles were selected. Allele frequencies of more than 10% included HLA-A*02 (29.37%), 24 (12.92%), 01 (11.84%), 03 (11.61%), HLA-B*35 (11.51%), 07 (10.76%), HLA-C*07 (22.56%), 06 (15.51%), 04 (13.06%), 03 (10.43%), 12 (10.24%), HLA-DRB1*07 (17.25%), 15 (12.73%), 13 (11.98%), 01 (11.84%), 04 (11.61%). 711 HLA-A-B-C-DRB1 four-locus haplotypes were determined using the software Arlequin v.3.1. The most frequently observed four-locus haplotypes were A*02-B*13-C*06-DRB1*07, A*03-B*35-C*07-DRB1*15, A*02- B*07-C*07-DRB1*15 with frequencies of 2.89%, 2.18% and 1.93%, respectively. The distribution of alleles and haplotype analysis allowed comparing the populations of the Republic of Bashkortostan with the other Russian populations.