HLA Allele and Haplotype Frequencies of the Portuguese Bone Marrow Donors Registry

São João, Ricardo; Papoila,  Ana Luisa; Ligeiro, Dário; Trindade, Hélder

http://hdl.handle.net/10400.15/2135

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Abstract(s)

Genes in human leucocyte antigens (HLA) System are important in the study of autoimmune diseases and responsible for the rejection of transplants of organs and tissues. HLA genes are part of the human major histocompatibility complex (MHC) which is characterized by the presence of several multigene families, extensive polymorphism at many loci and significant linkage disequilibrium between alleles at particular loci. We analysed HLA-A,-B,-DRB1 locus phenotypes through a sample of 1,021 subjects that were randomly selected among the volunteers recruited by the Portuguese Bone Marrow Donors Registry (Cedace) in order to evaluate allele, gene, haplotype and phenotype frequencies. Allelic frequencies in each of the studied locus were obtained by direct counting. Maximum-likelihood haplotype frequencies were estimated using an expectation-maximization (EM) algorithm [2]. Locus phenotype and gene relative frequencies were estimated according to Baur and Danilov [1]. Hardy–Weinberg equilibrium were tested. The data presented is a definition of HLA genetic repertoire of Cedace with relevance on the strategic management for the increase of a more diverse register with clinical utility.