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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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HLA-DQ5
HLA-DQ5 (DQ5) is a human leukocyte antigen serotype subgroup within HLA-DQ(DQ) serotypes. The serotype is determined by the antibody recognition of β5.x subset of DQ β-chains. The β-chain of DQ is encoded by HLA-DQB1 locus and DQ5 are encoded by the HLA-DQB1 allele group. This group currently contains 4 common alleles, DQB1, , , and . HLA-DQ5 and HLA-DQB1*05 are almost synonymous in meaning. DQ5 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. These isoforms, are all HLA-DQ1 encoded by the DQA1 allele group. Serology The efficiency of DQ1 recognition relative to DQ5 and DQ6 is listed above. Since DQ1 recognizes alpha, the DQ5 and DQ6 recognition are to beta chain. Meaning that DQ1 is corecognized with DQ5 and DQ6. Efficient recognition of a genotyped allele approaches 100%. Compared to DQ2 serotyping of DQB1*0201 positive individuals (98%), the efficiency of DQ5 recognition is relatively low and error pr ...
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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-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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HLA-DR13
HLA-DR13(DR13) is a HLA- DR serotype that recognizes the DRB1*1301 to *13082, *1310 and some other *13 gene products. DR13 serotype is a split antigen of the older HLA-DR6 serotype group which also contains the similar HLA-DR14 antigens. Alleles Serotypes are unknown the following alleles: DRB1*1309, *1315 to *1379 DRB1*13 allele group * 81 Alleles: 74 proteins * DR13 (weak or no DR6) Serotype: *1301, *1302, *1304, *1306, *1307, *1310, *1312 to *1314 * DR6 (weak DR13) Serotype: *1308 * DR13&Other serotypes: *1303, *1305, *1311, * Serotype unknown: *1309, *1315 to *1374 Disease associations DRB1*1302 is linked to early childhood myastenia gravis. Alleles of DR13 along with immunization for hepatitis B and C are most protective against the disease. Extended linkage DRB1*1302:DQA1*0102:DQB1*0604 Early childhood myastenia gravis Genetic Linkage HLA-DR13 is genetically linked to DR52 and HLA-DQ6 (HLA-DQ1 HLA-DQ1 is a serotype that covers a broad range of HLA-DQ haplotypes. ...
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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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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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Human Leukocyte Antigen
The human leukocyte antigen (HLA) system or complex is a complex of genes on chromosome 6 in humans which encode cell-surface proteins responsible for the regulation of the immune system. The HLA system is also known as the human version of the major histocompatibility complex (MHC) found in many animals. Mutations in HLA genes may be linked to autoimmune disease such as type I diabetes, and celiac disease. The HLA gene complex resides on a 3 Mbp stretch within chromosome 6, p-arm at 21.3. HLA genes are highly polymorphic, which means that they have many different alleles, allowing them to fine-tune the adaptive immune system. The proteins encoded by certain genes are also known as ''antigens'', as a result of their historic discovery as factors in organ transplants. HLAs corresponding to MHC class I ( A, B, and C), all of which are the HLA Class1 group, present peptides from inside the cell. For example, if the cell is infected by a virus, the HLA system brings fragme ...
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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 serotyping specificities only DQw1 recognized DQ alpha chain. The serotype is positive in individuals who bear the DQA1*01 alleles. The most frequently found within this group are: DQA1*0101, *0102, *0103, and *0104. In the illustration on the right, DQ1 serotyping antibodies recognizes the DQ α (magenta), where antibodies to DQA1* gene products bind variable regions close to the peptide binding pocket. Serotypes The serotyping efficiency of DQ1 recognition relative to DQ5 and DQ6 is listed below. Since DQ1 recognizes alpha, the DQ5 and DQ6 recognition are to beta chain. Meaning that DQ1 is corecognized with DQ5 and DQ6. The table to the left shows some of the serotyping efficiencies. Efficient recognition of a genotyped allele approa ...
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