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Submission of full‐length HLA allele sequences presents a unique challenge, both for high‐throughput sequencing laboratories and smaller diagnostic laboratories. HLA's extensive polymorphism means that accurate representation and annotation of allele sequence is of critical importance, and curators of nucleotide databases must establish submission formats to ensure high‐quality data and prevent ambiguities...
Background
Human leukocyte antigen (HLA)‐E is a non‐classical HLA class I molecule that plays a role in both the innate and the adaptive immune response through interaction with receptors on natural killer‐ and T‐cells. The HLA‐E gene is characterized by limited polymorphism compared with the classical HLA loci on chromosome 6. At the start of this study, only 13 variable sites had been identified...
Among the large number of human leucocyte antigen (HLA) alleles, only a few have been identified with a nucleotide polymorphism impairing correct splicing. Those alleles show aberrant expression levels, due to either a direct effect of the polymorphism on the normal splice site or to the creation of an alternative splice site. Furthermore, in several studies, the presence of alternatively spliced...
Currently 1582 HLA‐DRB1 alleles have been identified in the IMGT/HLA database (v3.18). Among those alleles, more than 90% have incomplete allele sequences, which complicates the analysis of the functional relevance of polymorphism beyond exon 2. The polymorphic index of each individual exon of the currently known allele sequences, shows that polymorphism is present in all exons, albeit not equally...
Human Leukocyte Antigen (HLA)‐E is a low‐polymorphic non‐classical HLA class I molecule which plays a crucial role in immune surveillance by presentation of peptides to T and natural killer (NK) cells. HLA‐E polymorphism is related to HLA‐E surface expression and is associated with patient outcome after stem cell transplantation. We aim to investigate the regulation of HLA‐E expression level in peripheral...
The functional relevance of human leukocyte antigen (HLA) class I allele polymorphism beyond exons 2 and 3 is difficult to address because more than 70% of the HLA class I alleles are defined by exons 2 and 3 sequences only. For routine application on clinical samples we improved and validated the HLA sequence‐based typing (SBT) approach based on RNA templates, using either a single locus‐specific...
Genetic polymorphism of human leukocyte antigen (HLA)‐DPA1 and ‐DPB1 loci was studied in 154 unrelated individuals from Guadeloupe, an archipelago of five islands located in the Carribean Sea. Thirty different DPB1 and eight different DPA1 alleles were observed with a heterozygosity index of 0.87 and 0.78, respectively. This high degree of heterozygosity corresponds with those found in African populations...
Cystic fibrosis (CF) is classically attributed to the dysfunction of the single CF transmembrane conductance regulator gene. The incidence of human leukocyte antigen (HLA) polymorphisms in different CF‐associated diseases raises the question of an unequal distribution of HLA genotypes in CF. This study aimed to evaluate HLA gene frequencies and possible associations in CF patients compared with a...
We have updated the catalogue of common and well‐documented (CWD) human leukocyte antigen (HLA) alleles to reflect current understanding of the prevalence of specific allele sequences. The original CWD catalogue designated 721 alleles at the HLA‐A, ‐B, ‐C, ‐DRB1, ‐DRB3/4/5, ‐DQA1, ‐DQB1, and ‐DPB1 loci in IMGT (IMmunoGeneTics)/HLA Database release 2.15.0 as being CWD. The updated CWD catalogue designates...
Despite DP antigens have been shown to be stimulators of the mixed lymphocyte reaction, human leukocyte antigen‐DPB1 is not considered in the matching criteria for hematopoietic stem cell transplantation (HSCT). The role of DPB1 matching in HSCT remains inconclusive because of contradictory findings in different studies. The concept of permissible and non‐permissible mismatches might clarify these...
The new HLA‐B*15:220 allele shows a single‐nucleotide substitution in exon 1 at position 47 (C>T) when compared to its closest allele HLA‐B*15:03:01, resulting in an amino acid substitution from Ala to Val in the signal peptide at codon −9.
Human leukocyte antigen (HLA)‐DP is considered a target for humoral immune response in clinical transplantation. This study analyses the incidence of HLA‐DP antibodies in renal patients. Development and epitope specificity of donor‐specific antibodies (DSA) and non‐DSA (NDSA) were examined. Pre‐ and posttransplant sera of 338 patients were screened for HLA‐DP antibodies using the luminex single antigen...
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