ABSTRACT
HLA-B*15:04:04 differs from HLA-B*15:04:01 by one nucleotide at codon 238 (gat > gac).
Subject(s)
Alleles , Blood Donors , Exons , HLA-B15 Antigen/genetics , Laboratory Proficiency Testing/standards , Point Mutation , Base Sequence , Blood Transfusion , Brazil , Codon/chemistry , HLA-B15 Antigen/immunology , Haplotypes , Histocompatibility Testing , Humans , Male , Middle Aged , Polymerase Chain Reaction , Sequence Alignment , Sequence Analysis, DNAABSTRACT
The novel HLA-B*53:39 allele differs from HLA-B*53:01 by a single nucleotide substitution at codon 45 (ACG>AAG).
Subject(s)
Genes, MHC Class I , HLA-B Antigens/genetics , Alleles , Amino Acid Sequence , Base Sequence , Codon/genetics , Female , Fetal Blood , Guadeloupe , Humans , Infant, Newborn , Molecular Sequence Data , Polymorphism, Single Nucleotide , Pregnancy , Sequence Alignment , Sequence HomologyABSTRACT
Bovine leukocyte antigens (BoLAs) are used extensively as markers for bovine disease and immunological traits. In this study, we estimated BoLA-DRB3 allele frequencies using 888 cattle from 10 groups, including seven cattle breeds and three crossbreeds: 99 Red Angus, 100 Black Angus, 81 Chilean Wagyu, 49 Hereford, 95 Hereford × Angus, 71 Hereford × Jersey, 20 Hereford × Overo Colorado, 113 Holstein, 136 Overo Colorado, and 124 Overo Negro cattle. Forty-six BoLA-DRB3 alleles were identified, and each group had between 12 and 29 different BoLA-DRB3 alleles. Overo Negro had the highest number of alleles (29); this breed is considered in Chile to be an 'Old type' European Holstein Friesian descendant. By contrast, we detected 21 alleles in Holstein cattle, which are considered to be a 'Present type' Holstein Friesian cattle. Chilean cattle groups and four Japanese breeds were compared by neighbor-joining trees and a principal component analysis (PCA). The phylogenetic tree showed that Red Angus and Black Angus cattle were in the same clade, crossbreeds were closely related to their parent breeds, and Holstein cattle from Chile were closely related to Holstein cattle in Japan. Overall, the tree provided a thorough description of breed history. It also showed that the Overo Negro breed was closely related to the Holstein breed, consistent with historical data indicating that Overo Negro is an 'Old type' Holstein Friesian cattle. This allelic information will be important for investigating the relationship between major histocompatibility complex (MHC) and disease.
Subject(s)
Alleles , Genetic Variation , Histocompatibility Antigens Class II/genetics , Phylogeny , Animals , Breeding , Cattle , Chile , Crosses, Genetic , Europe , Female , Gene Frequency , Histocompatibility Antigens Class II/classification , Histocompatibility Antigens Class II/immunology , Japan , Male , Phylogeography , Principal Component AnalysisABSTRACT
HLA-A*02:481 differs from HLA-A*02:01:01:01 by one nucleotide and was found in four unrelated Brazilians.
Subject(s)
Alleles , HLA-A2 Antigen/genetics , Base Sequence , Brazil , Female , HLA-B15 Antigen/genetics , HLA-C Antigens/genetics , HLA-DQ beta-Chains/genetics , HLA-DRB1 Chains/genetics , Humans , Male , Molecular Sequence DataABSTRACT
The aim of this study was to investigate the human leukocyte antigen (HLA) molecular variation across the Brazilian population in order to determine possible regional differences, which would be highly relevant to optimizing donor recruitment strategies in hematopoietic stem cell transplantation (HSCT) and understanding the population genetic background of this heterogeneous country. HLA data of 551 HSCT donors from five Brazilian regions were characterized by high-resolution DNA alleles at the HLA-A, -B, -C, -DRB1 and -DQB1 loci and compared with other populations in Brazil and worldwide populations. Allele and haplotype frequencies were estimated. The analysis was performed to assess Hardy-Weinberg equilibrium (HWE) and linkage disequilibrium (LD) among different loci in each recruitment center. Genetic variation was explored through genetic distance analyzed by using a new algorithm based on linear algebra, taking into account geographic regions of Brazil. The results indicated a heterogeneous genetic composition of the Brazilian population, such that HLA allele and haplotype frequencies exhibit different distributions among Brazilian regions, which has important implications for donor matching. In addition, a pronounced differentiation was observed by the absence of clustering of the regional populations in the reduced-dimension space. These data may be useful for increasing donor recruitment with more genetic representativeness in the Brazilian Volunteer Bone Marrow Donors Registry (REDOME).
Subject(s)
Donor Selection , Genetics, Population , HLA Antigens/genetics , Hematopoietic Stem Cells/cytology , Tissue Donors , Adolescent , Adult , Alleles , Brazil , Gene Frequency/genetics , Genetic Loci/genetics , Genetic Variation , Geography , Haplotypes/genetics , Humans , Linkage Disequilibrium/genetics , Middle Aged , Phylogeny , Young AdultABSTRACT
The HLA-B*27:102 allele may have originated by an intralocus gene conversion event.