• alleles
  • At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. (healthmatics.info)
  • Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. (healthmatics.info)
  • Because of its linkage within the AH8.1 haplotype many studies showed association with A1 or A1,B8 only later to show the association drift toward the class II region gene alleles, DR3 and DQ2.5. (wikipedia.org)
  • In all instances so far, HLA-A1 has been found to be linked to disease by association, but there are few that define HLA-A1 has a predominant genetic risk relative to other gene-alleles in the vicinity of the A1 gene on the larger haplotype. (wikipedia.org)
  • Molecular differences between HLA alleles vary up to 57 nucleotides within the peptide binding coding region of human Major Histocompatibility Complex (MHC) genes, but it is still unclear whether this variation results from a stochastic process or from selective constraints related to functional differences among HLA molecules. (blogspot.com)
  • Although HLA alleles are generally treated as equidistant molecular units in population genetic studies, DNA sequence diversity among populations is also crucial to interpret the observed HLA polymorphism ( Buhler S, Sanchez-Mazas A, 2011 HLA DNA Sequence Variation among Human Populations: Molecular Signatures of Demographic and Selective Events. (blogspot.com)
  • However, the application of molecular methods (RFLP, PCR, SSO etc.) to HLA typing has led to the situation whereby nearly every laboratory performs some DNA typing for the detection of HLA alleles. (blogspot.com)
  • A number of observations indicate that strong selection is acting on the HLA region, including its extensive polymorphism with very even allele frequencies, the preferential occurrence of high levels of variability at positions critical to antigen recognition, the great age of alleles and the patterns of linkage disequilibrium among loci. (blogspot.com)
  • The apparent great age of many HLA alleles revealed by phylogenetic analysis suggests that the absolute rate of production of new variants is not high. (blogspot.com)
  • All alleles receive at least a four digit name, which corresponds to the first two sets of digits, longer names are only assigned when necessary.The digits before the first colon describe the type, which often corresponds to the serological antigen carried by an allotype. (blogspot.com)
  • The haplotype can be written in an extended form covering the major histocompatibility loci as follows: HLA A*01:01 : Cw*07:01 : B*08:01 However, there are many other gene-alleles within the haplotype. (wikipedia.org)
  • In Africa A1-B8 and India A1-B8 is associated with other genes and other variants of A*01 and B*08 Philosophically, A1-B8 is more than just two gene-alleles. (wikipedia.org)
  • This disequilibrium made it appear that A1 and other class I gene-alleles were disease factors, when these alleles were only attached to a long segment of conserved DNA that had disease associated genes on the other end. (wikipedia.org)
  • In addition, there are longstanding, well-recognized associations between PSC and human leukocyte antigen (HLA) alleles (A1, B8, and DR3). (wikipedia.org)
  • There is a rather large degree of disequilibration about DQA1*0301 suggesting that this is one of the older and more established HLA DQB1* alleles in Eurasia. (wikipedia.org)
  • DQ8 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. (wikipedia.org)
  • loci
  • Why HLA loci are so important? (blogspot.com)
  • Reliable allele frequencies are also important in allogeneic unrelated hematopoietic stem cell transplantation to determine the likelihood of finding closely HLA matched donors for each patient.The genetic diversity of the HLA loci is responsible for the efficiency of the immune system in eliminating cells carrying foreign antigens. (blogspot.com)
  • haplotypes
  • Cw7 in Europe is part of the AH8.1 and HLA B7-DR15-DQ6 haplotypes. (wikipedia.org)
  • HLA DR3-DQ2 linkage and frequency indicates a strong possibility of a recent migration from either North or West Africa in which the DR3-DQ2 (notably DRB1*0302) and A*33-B*58 haplotypes were carried into and redistributed from Central Asia into the surrounding populations. (wikipedia.org)
  • B1*0301 and A1*03 haplotypes are found at relatively high frequencies in SE Asia and Austronesia, also indicating that it is well established in the exo-African population. (wikipedia.org)
  • In addition, there are several HLA-A*02 haplotypes that appear to contribute heavily to higher or lower viral loads in HIV patients. (wikipedia.org)
  • epitopes
  • Detailed studies of population and evolutionary features of the HLA region are necessary for an informed discussion of the evolution of disease predisposing genes and epitopes, and of complex multigene families (Thomson G.HLA population genetics.1991 Jun;5(2):247-60. (blogspot.com)
  • Detection of naturally processed and HLA-A1-presented melanoma T-cell epitopes defined by CD8(+) T-cells' release of granulocyte-macrophage colony-stimulating factor but not by cytolysis. (aacrjournals.org)
  • Such an immune response differentially defined by cytokine release, but absent cytotoxic functions, may either reflect the impaired cytolytic function of the TIL population or reflect the inherent nature of HLA-A1-presented melanoma T-cell epitopes leading to cytokine release, but not to a cytotoxic T-cell response. (aacrjournals.org)
  • Caucasian
  • The "HL-A1,8 phenotype" was found to be associated with severe systemic lupus erythematosus (SLE) (renal and central nervous system involvement) in Caucasian patients. (wikipedia.org)
  • genes
  • A1-B58 haplotype (A1-B17 where B58 is dominant) may remain associated with anti-neutrophil cytoplasmic antibody (ANCA) With the exception of type 1 diabetes, most of the evidence for direct association of A1 with autoimmune diseases evaporated as DR3 and DQ2 genes were characterized. (wikipedia.org)
  • A recent study of DR3-DQ2/DR4-DQ8 phenotype found that A1-cw7-B8 was actually lower than expected relative to other A-B types, indicating that risk associated genes are located between B8 and DR3. (wikipedia.org)
  • Genetically engineered temperature-sensitive class I HLA mutants are provided which can be used in a method to obtain peptides which are bound to MHC class I molecules on the surfaces of cells that are transfected with the mutant genes. (google.com)
  • 2. The method of claim 1, wherein said genes code for HLA-A201 heavy chains. (google.com)
  • Several antigens, including the products encoded by the genes MAGE-1 and MAGE-3, are recognized on human melanoma cells by HLA-A1, HLA-A2, or HLA-Cw*1601*-restricted T cells on autologous or HLA-matched melanoma cell lines. (aacrjournals.org)
  • Certain HLA DR and DQ genes have known involvement in autoimmune diseases. (wikipedia.org)
  • The linked haplotype is HLA A1-B8-DR3-DQ2 (AH8.1 in the most recent literature) Because of its strong linkage disequilbrium, each of the genes in the haplotype are markers for probable presence of adjacent genes. (wikipedia.org)
  • peptides
  • The fine specificity of the TIL line PM2-B2 restricted by HLA-A1 was further characterized by evaluating specific granulocyte-macrophage colony-stimulating factor release in response to MHC class I-eluted peptides derived from HLA-A1(+) melanoma cell lines. (aacrjournals.org)
  • We suggest, based on this report, that HLA-A1-presented melanoma-derived peptides (other than those previously reported peptides derived from MAGE-1 or MAGE-3) may represent targets for TIL recognition as defined by cytokine release, but not cytotoxicity. (aacrjournals.org)
  • This is a significant decrease and is almost certainly a result of the abnormally efficient binding of HLA-A*02 to peptides originating from EBV. (wikipedia.org)
  • This high affinity increases the probability of CD8+ t-cell recognition of EBV peptides held by HLA-A*02 complexes. (wikipedia.org)
  • molecules
  • inducing said transfected cells to express their class I HLA molecules by shifting the temperature to the range of between about 20 -30 C. (google.com)
  • destabilizing the expressed class I HLA molecules by shifting the temperature to about 37 C. (google.com)
  • viral
  • Some diseases found associated with A1 actually link to the extended A1-B8 haplotype, viral induced hepatitis and accelerated progression of HIV are examples. (wikipedia.org)
  • An association was seen between viral hepatitis and HLA-A1. (wikipedia.org)
  • HLA-A*02-C*16 and HLA-A*02-B*45 have been shown to contribute to significantly increased viral loads (greater than 100,000 copies per milliliter). (wikipedia.org)
  • Proteins
  • In essence, every individual's immune system is tuned to the specific set of HLA and self proteins produced by that individual. (wikipedia.org)
  • HLA research didn't heat up until the 1980s when a group of researchers finally elucidated the shape of the HLA-A*02 protein (just one of many specific HLA proteins). (wikipedia.org)
  • Even more recently, in 2010, the WHO committee responsible for naming all HLA proteins revised their standards for naming to introduce more clarity and specificity in the naming system. (wikipedia.org)
  • as of December 2013 there are 456 different HLA-A*02 proteins. (wikipedia.org)
  • Peptide
  • Thus any alteration to the HLA that induces decreased binding to a certain peptide or increased binding to a certain peptide, is expressed as, respectively, increased susceptibility to disease or decreased susceptibility to disease. (wikipedia.org)
  • responses
  • T cell responses against various antigens, including melanoma differentiation antigens, carcinoembryonic antigen, epithelial cell adhesion molecule, her-2/neu, Wilms' tumor protein, proteinase 3, NY-ESO-1, and surviving, have been reported in a substantial number of patients. (aacrjournals.org)
  • In contrast, other TAAs, including most antigens of the MAGE family, do not usually elicit spontaneous T cell responses. (aacrjournals.org)
  • Indeed, in vitro and in vivo experiments have shown T-cell-specific responses against MUC1 in an HLA-restricted and HLA-unrestricted manner, although some animal models have highlighted the possible development of tolerogenic responses against this antigen. (hindawi.com)
  • DQB1
  • DQ8 is determined by the antibody recognition of β8 and is complicated by the fact that DQ8 recognizes some HLA-DQB1*03 encoded isoforms well, partially or not well at all (See serology) DQ β3.2 and β3.5 are best recognized as DQ8. (wikipedia.org)
  • These split antigens are the allele products of the DQB1*0302 and DQB1*0305, respectively. (wikipedia.org)
  • HLA-DQ2 and HLA-DQB1*02 are almost synonymous in meaning. (wikipedia.org)
  • IMGT
  • Allele Query Form IMGT/HLA - European Bioinformatics Institute Middleton D, Menchaca L, Rood H, Komerofsky R (2003). (wikipedia.org)
  • DQ2.5
  • HLA DR3-DQ2 encodes DQ2.5cis isoform of HLA-DQ, this isoform is described frequently as 'the DQ2 isoform', but in actuality there are two major DQ2 isoform. (wikipedia.org)
  • DQ2.5 isoform or heterodimer is shorthand for the cell surface receptor HLA-DQ α5β2. (wikipedia.org)