The article presents a study on the distribution of gene polymorphisms in the histocompatibility antigens among the patients diagnosed with AML, and healthy donors in the Republic of Kazakhstan, as well as features of the HLA-A*, *B, Cw*, DRB1*, DQB1* distribution among the patients with acute myeloid leukemia (AML). HLA typing and data processing were performed at the Research and Production Center of Transfusiology, Nur-Sultan. A total of 3808 people were examined, including 3621 healthy blood donors and 187 patients diagnosed with AML. Genomic DNA for HLA typing was isolated from peripheral blood leukocytes by proteinase method using columns with silica membrane and using a set of reagents PROTRANS DNA BOX (Protrans, Germany). Typing of HLA-A, B, C, DRB1, DQB1 in the patients and blood donors was performed by polymerase chain reaction using commercial reagent kits from Protrans (PROTRANS HLA- A*/B*/DRB1* Cyclerplate System, PROTRANS HLA-C* Cyclerplate System, PROTRANS HLA-DQB1* Cyclerplate System).HLA-A*31 (OR = 1.8; CI 1.16-2.79; p < 0.01) proved to be more common in the group of patients compared to the control group, which suggesting an association between AML and presence of this antigen. The control group showed an increased frequency of HLA-A*02 antigen (OR = 0.55; CI 0.41-0.75; p < 0.01). This antigen may be, therefore, exert a protective effect in AML development.The studies of major histocompatibility complex which include HLA genes, did significantly expanded the understanding of HLA antigens which may have strong associative links with distinct diseases, and moderately or poorly expressed links in other disorders. Analysis of the literature data showed that myeloid leukemia is characterized by decreased frequency of HLA-B13, B14, B40 antigens, most often determined by antigens B16, Bw 22, B27. In this study, HLA-A*31, B*37 were associated with AML. Phenotypes with antigens HLA-A*02, B*27, C*02, DRB1*01, *04, DQB1*06 have a probable protective effect on the development of this pathology.The study has determined some features of histocompatibility gene distribution in AML patients, detection of HLA-markers that determine the risk or resistance to the occurrence of this disease. We have established characteristic specific markers of HLA system among AML patients in Kazakhstan, which may be associated with higher risk of the disease.

Aim. To compare the prevalence of HLA-system antigens genetic variants in potential hematopoietic stem cells donors in Kazakhstan and worldwide.Methods. Prevalence of HLA-antigens genetic variants in blood samples of potential hematopoietic stem cells donors included in hematopoietic stem cells donors register of Kazakhstan was analyzed and compared to a «Allele frequencies in Worldwide populations» database developed by the Royal Liverpool University Hospital.Results. The biggest overlap of Kazakhstan and World registers was seen in the distribution of 31-01 allele: 68 (4.5%) in Kazakhstan register, 1678 (4.63%) worldwide; odds ratio (OR) = 0.97 (0.76 to 1.24), F=0.851441, χ2=0.06. The biggest difference between the two registers was found in the distribution of locus A antigens: A 02-01 (χ2=24.59), A 02-07 (χ2=24.42), A 32-01 (χ2=27.1), A 02-37 (χ2=23.96), A 11-38 (χ2=3.96). In locus B alleles, the biggest overlap between the two comparison groups was in В 14:02 allele: Kazakhstan register - 31 (2.05%), worldwide register - 757 (2.01%) [OR=1.02 (0.71 to 1.47), F=0.851990, χ2=0.01], followed by 38:02 (χ2=0.02), 44:05 (χ2=0.03), in 27:07 (χ2=0.04), 54:01 (χ2=0.07). The biggest difference between the two registers was in 13:02 (χ2=256.9), 08:01 (χ2=26.92) locus B alleles. Distribution of locus C alleles was discovered to have the biggest statistical similarity of two registers provided by C 07:01 (χ2=0.07), 08:02 (χ2=0.15), 15:02 (χ2=0.23) 12:03 (χ2=0.76). The biggest difference in the distribution of locus C alleles between the two registers was in 06:02 (χ2=125.78) and C 03:02 (χ2=103.64).Conclusion. The overlap of HLA-antigens genetic variants distribution in Kazakhstan and global registers varies from 41 to 52% by loci (locus A - 50%, B - 52%, C - 48%, DRB1 - 51%, DQB1 - 41%, mean 48.4%, median 50%). Kazakhstan register contains information on unique HLA-antigens genetic variants not included in the general database, manifesting the need for national register development and its integration into the «Allele frequencies in Worldwide populations» register.