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HLA-DR52
HLA-DR52 is an HLA-DR serotype that recognizes gene products of HLA-DRB3 locus. Three allele groups can produce 35 isoforms. DRB3, DRB4, and DRB5 are minor DR beta-encoding loci, and they have been recognized as having distinct evolution, having diverged from DRB1 around 4 million years ago. The DRB3 locus is only apparent in a small subset of DR haplotypes, and most individuals lack DRB3. Alleles Associated diseases DR52 serotype is positively associated with systemic sclerosis, inflammatory myopathies, inclusion body myositis, DRB3*01 is positively associated with sarcoidosis, Grave's Disease, pulmonary sarcoidosis, DRB3*0101:DRB1*0301 is linked to Lofgren's syndrome DRB3*0202 is also linked to Grave's disease, serum IgG antibodies to ''Chlamydia pneumoniae'' with essential hypertension, acute necrotizing encephalopathy DRB3*0301 is weakly associated with anticardiolipin antibodies in SLE DRB3*0301:DRB1*1302 may be associated with Crohn's disease DRB1 linkage HLA-DRB3 ...
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HLA-DR11
HLA-DR11 (DR11) is a HLA- DR serotype that recognizes the DRB1*1101 to *1110. DR11 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR12 antigens. Serology The table above describes the efficiency of serological typing of DR11 and DR5. Serotypes are unknown the following alleles: DRB1*1110 to *1157 Disease associations By serotype DR11 is associated with grape anaphylaxis, well-differentiated thyroid cancer, low antibody production in Hepatitis C. By allele(s) DRB1*11 is associated systemic sclerosis (SSc) & anti-DNA topoisomerase I (anti-topo I) antibody DRB1*1101 is associated Anti-Ro/SSA with anti-La/SSB antibodies in neonatal lupus erythematosus, mite sensitive asthma, cervical cancer risk (HPV?) DRB1*1102: Tiopronin intolerance in rheumatoid arthritis DRB1*1104: pauciarticular juvenile rheumatoid arthritis By haplotype DR11 is an identifier for the DR11-DQ7/DR7-DQ2 transhaplotype isoform of celiac disease. DR11-D ...
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HLA-DR3
HLA-DR3 is composed of the HLA-DR17 and HLA-DR18 split 'antigens' serotypes. DR3 is a component gene-allele of the AH8.1 haplotype in Northern and Western Europeans. Genes between B8 and DR3 on this haplotype are frequently associated with autoimmune disease. Type 1 diabetes mellitus is associated with HLA-DR3 or HLA-DR4. Nearly half the US population has either DR3 or DR4 (only 1–3% have both), yet only a small percentage (about 0.5%) of these individuals will develop type 1 diabetes. Serology Some DR3 also react with HLA-DR17 and/or HLA-DR18. The DRB1*0304 primarily reacts with DR3. The serotypes of *0305, *0306, *0308 to *0331 are unknown. Disease associations By serotype HLA-DR3 is associated with early-age onset myasthenia gravis, Hashimoto's thyroiditis (along with DR5), primary sclerosing cholangitis, and opportunistic infections in AIDS, but lowered risk for cancers. It is also associated with membranous glomerulonephritis By allele DRB1*0301 (see HLA-DR17) DRB1* ...
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HLA-DR
HLA-DR is an MHC class II cell surface receptor encoded by the human leukocyte antigen complex on chromosome 6 region 6p21.31. The complex of HLA-DR (Human Leukocyte Antigen – DR isotype) and peptide, generally between 9 and 30 amino acids in length, constitutes a ligand for the T-cell receptor (TCR). HLA (human leukocyte antigens) were originally defined as cell surface antigens that mediate graft-versus-host disease. Identification of these antigens has led to greater success and longevity in organ transplant. Antigens most responsible for graft loss are HLA-DR (first six months), HLA-B (first two years), and HLA-A (long-term survival). Good matching of these antigens between host and donor is most critical for achieving graft survival. HLA-DR is also involved in several autoimmune conditions, disease susceptibility and disease resistance. It is also closely linked to HLA-DQ and this linkage often makes it difficult to resolve the more causative factor in disease. HLA-DR mol ...
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HLA-DR5
HLA-DR5 (DR5) is a broad-antigen serotype that is further split into HLA-DR11 and HLA-DR12 antigen serotypes. HLA-DR5 (Human Leukocyte Antigen DR5) is a protein that is encoded by a gene in the human leukocyte antigen (HLA) complex. The HLA complex is a group of genes located on chromosome 6 that plays a critical role in the immune system. HLA-DR5 is a type of HLA class II molecule that is expressed on the surface of immune cells called dendritic cells and monocytes. HLA-DR5 is involved in the presentation of peptides, which are short chains of amino acids, to T cells, a type of immune cell that plays a key role in the immune response. When HLA-DR5 presents a peptide to a T cell, it can stimulate the T cell to become activated and mount an immune response against the peptide. HLA-DR5 has been the focus of research in the field of immunology due to its potential role in the development of autoimmune disorders, such as rheumatoid arthritis, and in the response to certain infection ...
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HLA-DR12
HLA-DR12(DR12) is a HLA- DR serotype that recognizes the DRB1*1201 to *1203, *1206. DR12 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR11 antigens. Serology The table above describes the efficiency of serological typing of DR12 and DR5. Serotypes are unknown the following alleles: DRB1*1204,*1205 to *1207 to *1215 Alleles There are only 2 common allels for DRB1*12, *1201 and *1202. *1202 is more common on the West Pacific Rim and particularly Indochina and the South Pacific. Disease associations DR12 is associated with vulval lichen sclerosus, and undifferentiated spondyloarthritis. DRB1*1201 is associated with iritis in juvenile arthritis, primary antiphospholipid syndrome, tiopronin intolerance in rheumatoid arthritis, adult chronic articular Still's disease DRB1*1202 is found to be increased in narcolepsy associated sudden death syndrome in the Thai population, and narcolepsy in the Japanese population. Extend ...
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HLA-DR14
HLA-DR14(DR14) is a HLA- DR serotype that recognizes the DRB1*1401 to *1408, *1410 to *1418, and other *14 gene products. DR14 serotype is a split antigen of the older HLA-DR6 serotype group which also contains the similar HLA-DR13 antigens. Alleles Serotypes are unknown the following alleles: DRB1**1409, *1419 to *1462 Disease associations DRB1*1402: juvenile rheumatoid arthritis, increased longevity in Okinawans. Extended linkage DR*14:DQ5 haplotype: increased risk for non-AChR autoantibodies in myasthenia gravis. Genetic Linkage HLA-DR13 is genetically linked to HLA-DR52 and HLA-DQ5 (HLA-DQ1 HLA-DQ1 is a serotype that covers a broad range of HLA-DQ haplotypes. Historically it was identified as a DR-like alpha chain called DC1; later, it was among 3 types DQw1 (later DQ1, and split into DQ5 and DQ6), DQw2 and DQw3. Of these three ...) serotypes. References {{DEFAULTSORT:Hla-Dr14 6 ...
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Human Genome Organisation
The Human Genome Organisation (HUGO) is a non-profit organization founded in 1988. HUGO represents an international coordinating scientific body in response to initiatives such as the Human Genome Project. HUGO has four active committees, including the HUGO Gene Nomenclature Committee (HGNC), and the HUGO Committee on Ethics, Law and Society (CELS). History HUGO was established at the first meeting on genome mapping and sequencing at Cold Spring Harbor in 1988. The idea of starting the organization stemmed from South African biologist Sydney Brenner, who is best known for his significant contributions to work on the genetic code and other areas of molecular biology, as well as winning the 2002 Nobel Prize in Physiology or Medicine. A Founding Council was elected at the meeting with a total of 42 scientists from 17 different countries, with Victor A. McKusick serving as founding President. In 2016, HUGO was located at the EWHA Womans University in Seoul, South Korea. In 2020, the H ...
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European Bioinformatics Institute
The European Bioinformatics Institute (EMBL-EBI) is an Intergovernmental Organization (IGO) which, as part of the European Molecular Biology Laboratory (EMBL) family, focuses on research and services in bioinformatics. It is located on the Wellcome Genome Campus in Hinxton near Cambridge, and employs over 600 full-time equivalent (FTE) staff. Institute leaders such as Rolf Apweiler, Alex Bateman, Ewan Birney, and Guy Cochrane, an adviser on the National Genomics Data Center Scientific Advisory Board, serve as part of the international research network of the BIG Data Center at the Beijing Institute of Genomics. Additionally, the EMBL-EBI hosts training programs that teach scientists the fundamentals of the work with biological data and promote the plethora of bioinformatic tools available for their research, both EMBL-EBI and non-EMBL-EBI-based. Bioinformatic services One of the roles of the EMBL-EBI is to index and maintain biological data in a set of databases, including E ...
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Locus (genetics)
In genetics, a locus (plural loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association mapping, also known as "linkage disequilibrium mapping", is a method of ma ...
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Chromosome 6 (human)
Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the major histocompatibility complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation. Genes The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on chromosome 15), and encodes cell-surface antigen-presenting proteins among other functions. Number of genes In 2003, the entirety of chromosome 6 was manually annotated for proteins, resulting in the identification of 1,557 genes, and 633 pseudogenes. The following are some of the newer gene count estimates. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varie ...
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HLA-DR6
HLA-DR6 (DR6) is a broad-antigen serotype that is further split into HLA-DR13 and HLA-DR14 antigen serotypes. Serology DR6 serological reactivity is relatively poor compared to other serological Serology is the scientific study of serum and other body fluids. In practice, the term usually refers to the diagnostic identification of antibodies in the serum. Such antibodies are typically formed in response to an infection (against a given mic ... tests for DR antigens. Compare to DQ2 or DR7. Disease associations DR13 and DR14 share a common association to myasthenia gravis. Allele groups HLA-DRB1*13 and HLA-DRB1*14 encode serotypes of DR6. References {{DR serotypes 6 ...
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