Immunogenetic Characteristics of bone marrow and hematopoietic stem cell donors among residents of Saint Petersburg

Introduction. The study of the genetic characteristics of donors from regions of the Russian Federation is necessary to determine the frequency of occurrence of HLA alleles and haplotypes of donors and the level of recruitment activity. The study of the immunogenetic characteristics of donors recruited in various regions of the country is an urgent area of research.

Aim: to evaluate the immunogenetic characteristics of bone marrow and hematopoietic stem cell donors residing in St. Petersburg.

Materials and Methods. Blood samples were obtained from 691 donor-residents of St. Petersburg in the period from January 2024 to August 2024. Genomic DNA was isolated from 200 μl of peripheral blood with EDTA by column filtration. The concentration and quality of DNA preparations were measured using spectrophotometry, samples with concentrations from 5 to 100 ng/ml were taken into the study, and, if necessary, DNA samples were normalized with deionized water. HLA typing was performed using NGS technology in 2-field resolution at the HLA-A, HLA-C, HLA-B, HLA-DRB1 and HLA-DQB1 loci by mass parallel sequencing. The data was analyzed using the software in an automatic mode. To determine the frequencies of HLA alleles and haplotypes, the maximum likelihood method was used using the EM algorithm for poly-locus data.

Results. The study identified 36 allelic variants of the HLA-A, 32 HLA-C, 58 HLA-B, 37 HLA-DRB1, 20 HLADQB1 locus. Five-locus HLA haplotypes were established. The obtained results were compared with data from Russian donor populations. The study determined the frequency of occurrence of HLA -alleles and five-locus haplotypes in donors from St. Petersburg.

Conclusion. The presence of a significant number of alleles of each gene and the number of alleles detected once in a relatively small sample was revealed, which indicates a high immunogenetic diversity of donors-residents of St. Petersburg. Further research should be directed towards expanding the pool of donors typed in high resolution, which will increase the chances of selecting a compatible donor.

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