A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.
Transmembrane proteins that form the beta subunits of the HLA-DQ antigens.
Multiple protein bands serving as markers of specific ANTIBODIES and detected by ELECTROPHORESIS of CEREBROSPINAL FLUID or serum. The bands are most often seen during inflammatory or immune processes and are found in most patients with MULTIPLE SCLEROSIS.
A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.
Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.
A subtype of HLA-DRB beta chains that includes over 50 allelic variants. The HLA-DRB3 beta-chain subtype is associated with HLA-DR52 serological subtype.
A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.
Transmembrane proteins that form the alpha subunits of the HLA-DQ antigens.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Genetic loci associated with a QUANTITATIVE TRAIT.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Any method used for determining the location of and relative distances between genes on a chromosome.
An RNA polymerase II transcriptional inhibitor. This compound terminates transcription prematurely by selective inhibition of RNA synthesis. It is used in research to study underlying mechanisms of cellular regulation.
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. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes.
Identification of the major histocompatibility antigens of transplant DONORS and potential recipients, usually by serological tests. Donor and recipient pairs should be of identical ABO blood group, and in addition should be matched as closely as possible for HISTOCOMPATIBILITY ANTIGENS in order to minimize the likelihood of allograft rejection. (King, Dictionary of Genetics, 4th ed)
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts.
The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways.
Genetic loci in the vertebrate major histocompatibility complex that encode polymorphic products which control the immune response to specific antigens. The genes are found in the HLA-D region in humans and in the I region in mice.
A subtype of HLA-DRB beta chains that is associated with the HLA-DR53 serological subtype.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Polypeptide chains, consisting of 211 to 217 amino acid residues and having a molecular weight of approximately 22 kDa. There are two major types of light chains, kappa and lambda. Two Ig light chains and two Ig heavy chains (IMMUNOGLOBULIN HEAVY CHAINS) make one immunoglobulin molecule.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
A subtype of HLA-DRB beta chains that is associated with the HLA-DR51 serological subtype.
An HLA-DR antigen which is associated with HLA-DRB1 CHAINS encoded by DRB1*04 alleles.
The largest of polypeptide chains comprising immunoglobulins. They contain 450 to 600 amino acid residues per chain, and have molecular weights of 51-72 kDa.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Genotypic differences observed among individuals in a population.
HLA-DR antigen subtypes that have been classified according to their affinity to specific ANTIBODIES. The DNA sequence analyses of HLA-DR ALPHA-CHAINS and HLA-DR BETA-CHAINS has for the most part revealed the specific alleles that are responsible for each serological subtype.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Transmembrane proteins that form the beta subunits of the HLA-DP antigens.
DNA probes specific for the human leukocyte antigen genes, which represent the major histocompatibility determinants in humans. The four known loci are designated as A, B, C, and D. Specific antigens are identified by a locus notation and number, e.g., HLA-A11. The inheritance of certain HLA alleles is associated with increased risk for certain diseases (e.g., insulin-dependent diabetes mellitus).
Membrane glycoproteins consisting of an alpha subunit and a BETA 2-MICROGLOBULIN beta subunit. In humans, highly polymorphic genes on CHROMOSOME 6 encode the alpha subunits of class I antigens and play an important role in determining the serological specificity of the surface antigen. Class I antigens are found on most nucleated cells and are generally detected by their reactivity with alloantisera. These antigens are recognized during GRAFT REJECTION and restrict cell-mediated lysis of virus-infected cells.
Large, transmembrane, non-covalently linked glycoproteins (alpha and beta). Both chains can be polymorphic although there is more structural variation in the beta chains. The class II antigens in humans are called HLA-D ANTIGENS and are coded by a gene on chromosome 6. In mice, two genes named IA and IE on chromosome 17 code for the H-2 antigens. The antigens are found on B-lymphocytes, macrophages, epidermal cells, and sperm and are thought to mediate the competence of and cellular cooperation in the immune response. The term IA antigens used to refer only to the proteins encoded by the IA genes in the mouse, but is now used as a generic term for any class II histocompatibility antigen.
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
Class I human histocompatibility (HLA) antigens encoded by a small cluster of structural genes at the C locus on chromosome 6. They have significantly lower immunogenicity than the HLA-A and -B determinants and are therefore of minor importance in donor/recipient crossmatching. Their primary role is their high-risk association with certain disease manifestations (e.g., spondylarthritis, psoriasis, multiple myeloma).
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
The larger subunits of MYOSINS. The heavy chains have a molecular weight of about 230 kDa and each heavy chain is usually associated with a dissimilar pair of MYOSIN LIGHT CHAINS. The heavy chains possess actin-binding and ATPase activity.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Human immune-response or Class II antigens found mainly, but not exclusively, on B-lymphocytes and produced from genes of the HLA-D locus. They are extremely polymorphic families of glycopeptides, each consisting of two chains, alpha and beta. This group of antigens includes the -DR, -DQ and -DP designations, of which HLA-DR is most studied; some of these glycoproteins are associated with certain diseases, possibly of immune etiology.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
An HLA-DR antigen which is associated with HLA-DRB1 CHAINS encoded by DRB1*03 alleles.
Transmembrane proteins that form the beta subunits of the HLA-DR antigens. They are also referred to as the HLA-DR light chains.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
The smaller subunits of MYOSINS that bind near the head groups of MYOSIN HEAVY CHAINS. The myosin light chains have a molecular weight of about 20 KDa and there are usually one essential and one regulatory pair of light chains associated with each heavy chain. Many myosin light chains that bind calcium are considered "calmodulin-like" proteins.
A broad specificity HLA-DR antigen that is associated with HLA-DRB1 CHAINS encoded by DRB1*01:15 and DRB1*01:16 alleles.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Genetic loci in the vertebrate major histocompatibility complex which encode polymorphic characteristics not related to immune responsiveness or complement activity, e.g., B loci (chicken), DLA (dog), GPLA (guinea pig), H-2 (mouse), RT-1 (rat), HLA-A, -B, and -C class I genes of man.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement.
Sites on an antigen that interact with specific antibodies.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
The degree of antigenic similarity between the tissues of different individuals, which determines the acceptance or rejection of allografts.
Established cell cultures that have the potential to propagate indefinitely.
An independent state, an archipelago in the western Persian Gulf, northwest of Qatar. It comprises low-lying islands of Bahrain (the largest), Muharraq, Sitra, and several islets. It has extensive oil fields. The name comes from the Arabic al-bahrayn, "the two seas", with reference to its lying in the middle of a bay with its "two seas" east and west of it. (From Webster's New Geographical Dictionary, 1988, p107 & Room, Brewer's Dictionary of Names, 1992, p45)
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
The relationships of groups of organisms as reflected by their genetic makeup.
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
An individual having different alleles at one or more loci regarding a specific character.
Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
An individual in which both alleles at a given locus are identical.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
A specific HLA-B surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-B*44 allele family.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
Antigenic determinants recognized and bound by the T-cell receptor. Epitopes recognized by the T-cell receptor are often located in the inner, unexposed side of the antigen, and become accessible to the T-cell receptors after proteolytic processing of the antigen.
Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
A group of the D-related HLA antigens (human) found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.
Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
The rate dynamics in chemical or physical systems.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.
A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Lymphoid cells concerned with humoral immunity. They are short-lived cells resembling bursa-derived lymphocytes of birds in their production of immunoglobulin upon appropriate stimulation.
One of the types of light chains of the immunoglobulins with a molecular weight of approximately 22 kDa.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).
A specific HLA-B surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-B*07 allele family.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Proteins found in any species of bacterium.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
A broad-specificity HLA-DR antigen that is associated with HLA-DRB1 CHAINS encoded by DRB1*11 and DRB1*12 alleles.
Nucleosides in which the purine or pyrimidine base is combined with ribose. (Dorland, 28th ed)
A specific HLA-B surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-B*27 allele family.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Individuals whose ancestral origins are in the continent of Europe.
The functional hereditary units of BACTERIA.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
That region of the immunoglobulin molecule that varies in its amino acid sequence and composition, and comprises the binding site for a specific antigen. It is located at the N-terminus of the Fab fragment of the immunoglobulin. It includes hypervariable regions (COMPLEMENTARITY DETERMINING REGIONS) and framework regions.
A group of genetically identical cells all descended from a single common ancestral cell by mitosis in eukaryotes or by binary fission in prokaryotes. Clone cells also include populations of recombinant DNA molecules all carrying the same inserted sequence. (From King & Stansfield, Dictionary of Genetics, 4th ed)
A diverse superfamily of proteins that function as translocating proteins. They share the common characteristics of being able to bind ACTINS and hydrolyze MgATP. Myosins generally consist of heavy chains which are involved in locomotion, and light chains which are involved in regulation. Within the structure of myosin heavy chain are three domains: the head, the neck and the tail. The head region of the heavy chain contains the actin binding domain and MgATPase domain which provides energy for locomotion. The neck region is involved in binding the light-chains. The tail region provides the anchoring point that maintains the position of the heavy chain. The superfamily of myosins is organized into structural classes based upon the type and arrangement of the subunits they contain.
Ordered rearrangement of B-lymphocyte variable gene regions coding for the kappa or lambda IMMUNOGLOBULIN LIGHT CHAINS, thereby contributing to antibody diversity. It occurs during the second stage of differentiation of the IMMATURE B-LYMPHOCYTES.
An HLA-DR antigen associated with HLA-DRB1 CHAINS that are encoded by DRB1*01 alleles.
A specific HLA-A surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-A*02 allele family.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The process by which antigen is presented to lymphocytes in a form they can recognize. This is performed by antigen presenting cells (APCs). Some antigens require processing before they can be recognized. Antigen processing consists of ingestion and partial digestion of the antigen by the APC, followed by presentation of fragments on the cell surface. (From Rosen et al., Dictionary of Immunology, 1989)
Proteins prepared by recombinant DNA technology.
A HLA-DR antigen that is associated with HLA-DRB1 CHAINS encoded by DRB1*07 alleles.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific HLA-B surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-B*08 allele family.
Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.
The sum of the weight of all the atoms in a molecule.
Compounds and molecular complexes that consist of very large numbers of atoms and are generally over 500 kDa in size. In biological systems macromolecular substances usually can be visualized using ELECTRON MICROSCOPY and are distinguished from ORGANELLES by the lack of a membrane structure.
Individuals supplying living tissue, organs, cells, blood or blood components for transfer or transplantation to histocompatible recipients.
Antibodies produced by a single clone of cells.
Ordered rearrangement of B-lymphocyte variable gene regions of the IMMUNOGLOBULIN HEAVY CHAINS, thereby contributing to antibody diversity. It occurs during the first stage of differentiation of the IMMATURE B-LYMPHOCYTES.
The functional hereditary units of PLANTS.
One of the types of light chain subunits of the immunoglobulins with a molecular weight of approximately 22 kDa.
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
A stochastic process such that the conditional probability distribution for a state at any future instant, given the present state, is unaffected by any additional knowledge of the past history of the system.
An 11-kDa protein associated with the outer membrane of many cells including lymphocytes. It is the small subunit of the MHC class I molecule. Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants.
Elements of limited time intervals, contributing to particular results or situations.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.
A specific HLA-A surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-A*01 allele family.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
Transmembrane proteins that form the alpha subunits of the HLA-DR antigens. They are also referred to as the HLA-DR heavy chains.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Genes encoding the different subunits of the IMMUNOGLOBULINS, for example the IMMUNOGLOBULIN LIGHT CHAIN GENES and the IMMUNOGLOBULIN HEAVY CHAIN GENES. The heavy and light immunoglobulin genes are present as gene segments in the germline cells. The completed genes are created when the segments are shuffled and assembled (B-LYMPHOCYTE GENE REARRANGEMENT) during B-LYMPHOCYTE maturation. The gene segments of the human light and heavy chain germline genes are symbolized V (variable), J (joining) and C (constant). The heavy chain germline genes have an additional segment D (diversity).
Immunized T-lymphocytes which can directly destroy appropriate target cells. These cytotoxic lymphocytes may be generated in vitro in mixed lymphocyte cultures (MLC), in vivo during a graft-versus-host (GVH) reaction, or after immunization with an allograft, tumor cell or virally transformed or chemically modified target cell. The lytic phenomenon is sometimes referred to as cell-mediated lympholysis (CML). These CD8-positive cells are distinct from NATURAL KILLER CELLS and NATURAL KILLER T-CELLS. There are two effector phenotypes: TC1 and TC2.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Antibodies from an individual that react with ISOANTIGENS of another individual of the same species.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
A family composed of spouses and their children.
Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.
A group of antigens that includes both the major and minor histocompatibility antigens. The former are genetically determined by the major histocompatibility complex. They determine tissue type for transplantation and cause allograft rejections. The latter are systems of allelic alloantigens that can cause weak transplant rejection.
Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.
Biochemical identification of mutational changes in a nucleotide sequence.
Transmembrane proteins that form the alpha subunits of the HLA-DP antigens.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
Deoxyribonucleic acid that makes up the genetic material of plants.
A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
Methods used for studying the interactions of antibodies with specific regions of protein antigens. Important applications of epitope mapping are found within the area of immunochemistry.
A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus OSTERTAGIA.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A specific HLA-B surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-B*35 allele family.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Subunits of the antigenic determinant that are most easily recognized by the immune system and thus most influence the specificity of the induced antibody.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.
Morphologic alteration of small B LYMPHOCYTES or T LYMPHOCYTES in culture into large blast-like cells able to synthesize DNA and RNA and to divide mitotically. It is induced by INTERLEUKINS; MITOGENS such as PHYTOHEMAGGLUTININS, and by specific ANTIGENS. It may also occur in vivo as in GRAFT REJECTION.
Fungal genes that mostly encode TRANSCRIPTION FACTORS. In some FUNGI they also encode PHEROMONES and PHEROMONE RECEPTORS. The transcription factors control expression of specific proteins that give a cell its mating identity. Opposite mating type identities are required for mating.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A genus of parasitic nematodes occurring in the stomach of ruminants.
The heavy chain subunits of clathrin.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
An enzyme that phosphorylates myosin light chains in the presence of ATP to yield myosin-light chain phosphate and ADP, and requires calcium and CALMODULIN. The 20-kDa light chain is phosphorylated more rapidly than any other acceptor, but light chains from other myosins and myosin itself can act as acceptors. The enzyme plays a central role in the regulation of smooth muscle contraction.
Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)
However it can pair with, in any individual, the beta chain from 3 different DR beta loci, DRB1, and two of any DRB3, DRB4, or ... HLA class II histocompatibility antigen, DR alpha chain is a protein that in humans is encoded by the HLA-DRA gene. HLA-DRA ... There are two different HLA-DRA chains in the human population coded by three different DRA alleles: HLA-DR ENSG00000228987, ... DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. ...
HLA A*0201Cw*0702 : B*0702 : DRB1*1501 : DQA1*0102 : DQB1*0602 The gene-allele representation of the haplotype is: HLA A*0301Cw ... The haplotype can be written in an extended form covering the major histocompatibility loci as follows: HLA Cw*0702 : B*0702 : ... The other B7-DR2-DQ1 stems from the fact that DQ1 is an alpha chain serotype that is now covered by the beta chain type DQ5 and ... HLA B7-DR15-DQ6 is a representation(by serotype) of a common HLA haplotype found in Western Eurasia. ...
derived from IMGT/HLA Zhai L, Sun Y, Tang L, Liu H (2007). "Polymorphism between loci for human leukocyte antigens DR and DQ in ... Törn C, Gupta M, Sanjeevi CB, Aberg A, Frid A, Landin-Olsson M (2004). "Different HLA-DR-DQ and MHC class I chain-related gene ... Tsuchiya N, Kobayashi S, Hashimoto H, Ozaki S, Tokunaga K (2006). "Association of HLA-DRB1*0901-DQB1*0303 haplotype with ... HLA-DQ9 (DQ9) is a human leukocyte antigen serotype within the HLA-DQ (DQ) serotype group. DQ9 is a split antigen of the DQ3 ...
The β-chain of DQ is encoded by HLA-DQB1 locus and DQ4 are encoded by the HLA-DQB1*04 allele group. This group currently ... DQA1*0303:DQB1*0401 is linked to DRB1*0405 and is common on the west Pacific rim, from Indonesia to Japan and inland areas of ... HLA-DQ4 and HLA-DQB1*04 are almost synonymous in meaning. DQ4 β-chains combine with α-chains, encoded by genetically linked HLA ... DQ4.24 is also high in the Swedes however this may be due to east to west gene flow tracable at other HLA loci. Since DQA1*0401 ...
HLA-DP α-chain encoded by HLA-DPA1 locus β-chain encoded by HLA-DPB1 locus HLA-DQ α-chain encoded by HLA-DQA1 locus β-chain ... encoded by HLA-DQB1 locus HLA-DR α-chain encoded by HLA-DRA locus 4 β-chains (only 3 possible per person), encoded by HLA-DRB1 ... It has been shown that high resolution HLA typing (HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1 and HLA-DPB1) may be relevant in ... There are 3 major and 3 minor MHC class I genes in HLA. Major MHC class I HLA-A HLA-B HLA-C Minor genes are HLA-E, HLA-F and ...
Gorski J (1989). "First domain sequence of the HLA-DRB1 chain from two HLA-DRw14 homozygous typing cell lines: TEM (Dw9) and ... Gyllensten UB, Sundvall M, Erlich HA (1991). "Allelic diversity is generated by intraexon sequence exchange at the DRB1 locus ... The protein encoded by this gene belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer ... 1991). "The HIV core protein p24 inhibits interferon-gamma-induced increase of HLA-DR and cytochrome b heavy chain mRNA levels ...
For A33, the alpha "A" chain are encoded by the HLA-A*33 allele group and the β-chain are encoded by B2M locus. A33 and A*33 ... Lee KW, Oh DH, Lee C, Yang SY (2005). "Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean ... 2006). "HLA-A, -B, and -DRB1 polymorphism defined by sequence-based typing of the Han population in Northern China". Tissue ... 2004). "Differentiation between African populations is evidenced by the diversity of alleles and haplotypes of HLA class I loci ...
The β-chain of DQ is encoded by HLA-DQB1 locus and DQ2 are encoded by the HLA-DQB1*02 allele group. This group currently ... age of presentation in adults is influenced by HLA DRB1 and DQB1 genotypes (UKPDS 43). UK Prospective Diabetes Study (UKPDS) ... HLA-DQ2 and HLA-DQB1*02 are almost synonymous in meaning. DQ2 β-chains combine with α-chains, encoded by genetically linked HLA ... DQA1*03, *05 chains process to near identical alpha chains. The *04 chain can potentially complex with DQ2 forming DQ2.4. In ...
Linkage could not be extended to HLA-DPB1 locus.[34] Outside of Europe the DRB1*0301 and DR3-DQ2 loci have been linked to ... Starting from B8, immediately followed by the MICA and MICB which stand for MHC I-like chain A and B. These two functional ... In the US Caucasians, 57% of haplotypes with a core component, Cw7-B8, extend from HLA-A1 locus to DQ2 locus. This compares ... "Meta-analysis of HLA-DRB1 and HLA-DQB1 polymorphisms in Latin American patients with systemic lupus erythematosus". Autoimmun ...
For A36, the alpha "A" chain are encoded by the HLA-A*36 allele group and the β-chain are encoded by B2M locus. This group ... notably DRB1*0302) and A*33-B*58 haplotypes were carried into and redistributed from Central Asia into the surrounding ... HLA-A36 (A36) is a human leukocyte antigen serotype within HLA-A serotype group. The serotype is determined by the antibody ... Allele Query Form IMGT/HLA - European Bioinformatics Institute Sasazuki, Takehiko; Tsuji, Kimiyoshi; Aizawa, Miki (1992). HLA ...
The β-chain of DQ is encoded by HLA-DQB1 locus and DQ5 are encoded by the HLA-DQB1*05 allele group. This group currently ... MuSK antibody-positive myasthenia gravis HLA-DR14-DQ5, probably DRB1*1402 : DQA1*0104 : DQB1*0503 (DR14-DQ5). DR1-DQ5 is ... HLA-DQ5 and HLA-DQB1*05 are almost synonymous in meaning. DQ5 β-chains combine with α-chains, encoded by genetically linked HLA ... HLA-DQ5 (DQ5) is a human leukocyte antigen serotype subgroup within HLA-DQ(DQ) serotypes. The serotype is determined by the ...
"Allelic diversity is generated by intraexon sequence exchange at the DRB1 locus of primates". Proc. Natl. Acad. Sci. U.S.A. 88 ... HLA class II histocompatibility antigen, DRB5 beta chain is a protein that in humans is encoded by the HLA-DRB5 gene.[5] ... HLA-DRB5, HLA-DRB, major histocompatibility complex, class II, DR beta 5, HLA-DRB5* ... The protein encoded by this gene belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer ...
For A3, the alpha, "A", chain are encoded by the HLA-A*03 allele group and the β-chain are encoded by B2M locus. This group ... A*0301 : C*0702 : B*0702 : DRB1*1501 : DQA1*0102 : DQB1*0602 Arce-Gomez B, Jones EA, Barnstable CJ, Solomon E, Bodmer WF ( ... The HFE (Hemochromatosis) locus lies between A3 and B7 within the A3::DQ6 superhaplotype. HLA-A3 selects HIV evolution for a ... HLA-A3 (A3) is a human leukocyte antigen serotype within HLA-A serotype group. The serotype is determined by the antibody ...
DQ8 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. There ... Velickovic Z, Delahunt B, Carter J (2002). "HLA-DRB1 and HLA-DQB1 polymorphisms in Pacific Islands populations". Tissue ... DQ8 increases the risk for rheumatoid arthritis and is linked to the primary risk locus for RA, HLA-DR4. DR4 also plays an ... "Frequencies of HLA-A, HLA-B, HLA-DR, and HLA-DQ phenotypes in the United Arab Emirates population". Tissue Antigens. 66 (2): ...
The HLA-DRB4 locus encodes the HLA-DR53 specificity, has some variation, and is associated with certain HLA-DRB1 types. The HLA ... HLA-DR is encoded by several loci and several 'genes' of different function at each locus. The DR α-chain is encoded by the HLA ... and at the HLA-DRB1 locus to a greater degree relative to HLA-DQB1 and HLA-DPB1. Most of the HLA alleles currently present in ... DRB1*. The HLA-DRB1 locus is ubiquitous and encodes a very large number of functionally variable gene products (HLA-DR1 to HLA- ...
HLA-DR *α-chain encoded by HLA-DRA locus. *4 β-chains (only 3 possible per person), encoded by HLA-DRB1, DRB3, DRB4, DRB5 loci ... HLA-B*08:01, A*68:01, A*24:02:01N N=Null) to designate a specific allele at a given HLA locus. HLA loci can be further ... HLA-C. Minor genes are HLA-E, HLA-F and HLA-G. β2-microglobulin binds with major and minor gene subunits to produce a ... MHC loci are some of the most genetically variable coding loci in mammals, and the human HLA loci are no exceptions. Despite ...
In West Africa an HLA class I antigen (HLA Bw53) and an HLA class II haplotype (DRB1*13OZ-DQB1*0501) are independently ... In both cases the only signal of association reaching genome-wide significance was with the HBB locus encoding the β-chain of ... β-chain (hemoglobin) - subcomponents of the hemoglobin molecule; two α-chains and two β-chains make up normal hemoglobin (HbA) ... Polymorphisms at the HLA loci, which encode proteins that participate in antigen presentation, influence the course of malaria ...
... and C loci. (6p21.3) HLA-DQA1 and HLA-DQB1 form HLA-DQ heterodimer MHC class II, DQ: Celiac1, IDDM (6p21.3) HLA-DRA, HLA-DRB1, ... branched-chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) (6q14.1) BMIQ3: body mass index QTL 3 ... HLA-DRB3, HLA-DRB4, HLA-DRB5 forms HLA-DR, heterodimer MHC class II, DR (6p21.3) HLA-DPA1 and HLA-DPB1 forms HLA-DP, MHC class ... HLA-A, HLA-B, HLA-C: major histocompatibility complex (MHC), class I, A, B, ...
2006). "Investigation of the HLA-DRB1 locus in alopecia areata". European Journal of Dermatology. 16 (4): 363-7. PMID 16935791 ... "A possible association between basic amino acids of position 13 of DRB1 chains and autoimmune hepatitis". Immunogenetics. 36 (1 ... HLA-DR4 (DR4) is an HLA-DR serotype that recognizes the DRB1*04 gene products. The DR4 serogroup is large and has a number of ... derived from IMGT/HLA Roudier J (2006). "HLA-DRB1 genes and extraarticular rheumatoid arthritis". Arthritis Research & Therapy ...
The β-chain of DQ isoforms are encoded by HLA-DQB1 locus and DQ6 are encoded by the HLA-DQB1*06 allele group. This group ... 1994). "HLA-DQA1, -DQB1 and -DRB1 genotyping in Japanese pemphigus vulgaris patients by the PCR-RFLP method". Tissue Antigens. ... HLA-DQ6 and DQB1*06 are almost synonymous in meaning. DQ6 β-chains combine with α-chains, encoded by genetically linked HLA- ... Sang Y, Yan C, Zhu C, Ni G (2001). "Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 ...
1986). "Characterization of two distinct DR beta chain alleles at the beta III locus of the DR5 haplotype: beta III alleles are ... DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and ... HLA class II histocompatibility antigen, DRB3-1 beta chain is a protein that in humans is encoded by the HLA-DRB3 gene. The ... Gorski J, Mach B (1986). "Polymorphism of human Ia antigens: gene conversion between two DR beta loci results in a new HLA-D/DR ...
For A*02, the α chain is encoded by the HLA-A*02 gene and the β chain is encoded by the B2M locus. In 2010 the World Health ... DRB1*0401 : DQA1*0301 : DQB1*0302 Another haplotype that is more common in Central Europe is the (A2-B44-DR7-DQ2) A*0201 : C* ... Before this revision, HLA-A*02 was also referred to as HLA-A2, HLA-A02, and HLA-A*2. HLA-A*02 is one particular class I major ... HLA-A*02 appears to be somewhat less effective than other HLA-As at protecting against HIV infections. HLA-A*02 has been linked ...
... but complicated by 4 beta chain loci (DRB1, DRB3, DRB4, and DRB5). Serotypes to DQ reacted with alpha and beta chains, or both ... "HLA Nomenclature @ Hla.alleles.org." HLA Nomenclature @ Hla.alleles.org. Anthony Nolan Research Institute, 10 Nov. 2013. Web. ... The next portion (HLA-A or HLA-B) identifies which gene the allele is a modification of. The first two numbers (HLA-A*02) ... For example, "HL-A2" became HLA-A2, "HL-A7" became HLA-B7 and "HL-A8" became HLA-B8. In this arrangement there were cells that ...
... a couple of genes HLA-DQ (DQA1 and DQB1, for α and β chains), one gene HLA-DRα (DRA1), and one or more genes HLA-DRβ (DRB1 and ... The most diverse loci, namely HLA-A, HLA-B, and HLA-C, have roughly 6000, 7200, and 5800 known alleles, respectively. Many HLA ... HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRA, and HLA-DRB1. In humans, the MHC gene cluster is divided ... HLA-A, HLA-B and HLA-C), and so can express six different types of MHC-I (see figure). In the class-II locus, each person ...
Bao F, Yu L, Babu S, Wang T, Hoffenberg EJ, Rewers M, Eisenbarth GS (1999). "One third of HLA DQ2 homozygous patients with type ... A T. aesitivum storage globulin, Glb-1 (locus), was identified that is similar to the hypersensitizing peanut protein Ara h 1 ... branched-chain alpha-keto acid dehydrogenase), 2 or more nuclear proteins (nucleoporin 210kDa, nucleoporin 62kDa, centromere ... the RA association with Triticeae consumption is secondary to GSE and involves DRB1*0401/4 linkages to DQ8 and is debatable. In ...
2007). "HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease". Scand. J. Gastroenterol. 42 (1): ... A T. aesitivum storage globulin, Glb-1 (locus), was identified that is similar to the hypersensitizing peanut protein Ara h 1 ... the RA association with Triticeae consumption is secondary to GSE and involves DRB1*0401/4 linkages to DQ8[96] and is debatable ... branched-chain alpha-keto acid dehydrogenase), 2 or more nuclear proteins (nucleoporin 210kDa, nucleoporin 62kDa, centromere ...
HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5 forms HLA-DR, heterodimer MHC class II, DR ... HLA-A, HLA-B, HLA-C: major histocompatibility complex (MHC), class I, A, B, and C loci. ... BCKDHB: branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) ... HLA-DQA1 and HLA-DQB1 form HLA-DQ heterodimer MHC class II, DQ: Celiac1, IDDM ...
In West Africa an HLA class I antigen (HLA Bw53) and an HLA class II haplotype (DRB1*13OZ-DQB1*0501) are independently ... In both cases the only signal of association reaching genome-wide significance was with the HBB locus encoding the β-chain of ... α-chain / β-chain (hemoglobin) - subcomponents of the hemoglobin molecule; two α-chains and two β-chains make up normal ... Polymorphisms at the HLA loci, which encode proteins that participate in antigen presentation, influence the course of malaria ...
A common genetic variant at the TRAF1-C5 locus on chromosome 9 is associated with an increased risk of anti-CCP-positive ... HLA-DR Antigens * HLA-DRB1 Chains * Peptides, Cyclic * TNF Receptor-Associated Factor 1 ... Although HLA-DRB1 and PTPN22 are well-established susceptibility loci, other genes that confer a modest level of risk have been ... TRAF1-C5 as a Risk Locus for Rheumatoid Arthritis--A Genomewide Study N Engl J Med. 2007 Sep 20;357(12):1199-209. doi: 10.1056/ ...
In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) ... class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta ... HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to ... also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II ...
The SE genes were identified by polymerase chain reaction sequence-specific primers. Anti-CCP2 antibodies and RFs were ... defined as HLA-DRB1*0404 or DRB1*0401, and of anti-CCP antibodies and RFs in individuals who subsequently developed RA. ... HLA-DRB1 genotyping was performed using polymerase chain reaction sequence-specific primers from DR low-resolution kit and DRB1 ... A combination of autoantibodies to cyclic citrullinated peptide (CCP) and HLA-DRB1 locus antigens is strongly associated with ...
HLA-A, -B, and -C) or class II loci HLA-DPA1, HLA-DPB1, HLA-DRB3, HLA-DRB4, and HLA-DRB5 after conditioning on the HLA-DRB1 ... that the entirety of HLA risk and protection in PD can be explained by the SE of HLA-DRB1 at positions 70-74 in the β-chain α- ... seven HLA-DRB1 alleles have the SE, including HLA-DRB1*10:01 and additional alleles of the HLA-DRB1*04 and HLA-DRB1*01 lineages ... HLA-DRB1 (MIM: 142857), HLA-DRB3 (MIM: 612735), HLA-DRB4, HLA-DRB5 (MIM: 604776), HLA-DQA1 (MIM: 146880), HLA-DQB1 (MIM: 604305 ...
Several HLA-DRB1 alleles (within the DRB1*04 and DRB1*01 loci) have been described as risk factors for the development of RA. ... 21 Genotyping for HLA-DRB1 allotypes was conducted using the sequence-specific primer-polymerase chain reaction method (DR low- ... The HLA-DR SE alleles, which are found within the DRB1*04 and DRB1*01 families of HLA-DRB1 alleles are well-known risk factors ... No SE (−/−), n = 38; HLA-DRB1*01 (DR*01), n = 41; HLA-DRB1*04 (DR*04), n = 110. Then, the levels of (A) IgG anti-CCP antibodies ...
Low-resolution typing for HLA-A, -B, and -DRB1 loci was performed by using polymerase chain reaction-sequence-specific ... DRB1 loci with sequence-specific oligonucleotide probe (PCR-SSO); at high resolution for HLA-DQB1 locus by PCR with sequence- ... On the contrary, a strong positive association was found for the HLA class II alleles DQB1*05:02 (. ) and DRB1*16 (. ) in the ... On the contrary, a strong positive association was found for the HLA class II alleles DQB1*05:02, (. ) and DRB1*16 (. ) among ...
Rapid typing of DNA sequence polymorphism at the HLA-DRB1 locus using the polymerase chain reaction and nonradioactive ... Erlich H., Bugawan T., Begovich A., Scharf S. Analysis of HLA class II polymorphism using polymerase chain reaction. Arch. ... HLA A*0207, A*3303, B*4601, B*5801, DRB1*0301, and DPB1*0401), and the remaining participants were classified as negative for " ... Other factors, both exogenous (diet and smoking) and host factors (HLA and CYP2E1) have been shown to be associated with the ...
Could HLA-DRB1 be the protective locus in rheumatoid arthritis? / Zanelli, Eric; Gonzalez-Gay, Miguel A.; David, Chella S. ... Zanelli, E., Gonzalez-Gay, M. A., & David, C. S. (1995). Could HLA-DRB1 be the protective locus in rheumatoid arthritis? ... title = "Could HLA-DRB1 be the protective locus in rheumatoid arthritis?",. abstract = "Extensive studies in different ethnic ... Zanelli, E, Gonzalez-Gay, MA & David, CS 1995, Could HLA-DRB1 be the protective locus in rheumatoid arthritis?, Immunology ...
Keywords: Alleles, Animals, Evolution, Molecular, HLA-DR Antigens, HLA-DRB1 Chains, Humans, Phylogeny, Polymorphism, Genetic, ... The HLA region harbors some of the most polymorphic loci in the human genome. Among them is the class II locus HLA-DRB1, with ... Here, we investigate the evolutionary history of the HLA-DRB1 locus on the basis of an analysis of 15 genomic full-length ... Full-length sequence analysis of the HLA-DRB1 locus suggests a recent origin of alleles.. ...
Although the HLA-DRA locus is monomorphic, ,300 alleles have been described for the HLA-DRB1 locus (3). X-ray data indicate ... Because the HLA-DR α-chain has yet to exhibit binding site polymorphism, only the HLA-DR β-chains were varied, generating 347 ... DRB1*1101-47, DRB1*1201-09), DR6 (DRB1*1301-62, DRB1*1403, 16, 22, 25, 27, 40), and DR8 (DRB1*0801-25). As most DR4 alleles go ... The binding motif for HLA-DRB1*0101 favors Leu or Ala at position 9 (Table II⇑) and that for HLA-DRB1*1501, favors Gly, Ser, ...
HLA-DRB1, HLA-DQB1, CD14), and genes participating in cellular inflammation (eg, genes encoding granulocyte-monocyte colony- ... More recent the most replicated is at the chromosome 17q21 locus. This locus contains the ORMDL3 gene, which is an allergen and ... Examples include the FCER1B gene, which encodes the beta chain of the high-affinity IgE receptor; the genes encoding certain ... it was the first asthma risk locus found with whole-genome family linkage studies. ...
We used a sequence-specific primer polymerase chain reaction method to define the allele type of the DRB1* loci in 91 patients ... The occurrence of PV is positively associated with HLA-DRB1*14 and HLA-DRB1*0402 but negatively associated with HLA-DRB1*11 in ... Allelic variation in HLA-DRB1* loci in Syrian pemphigus vulgaris patients.. Harfouch E1, Daoud S. ... We noticed an increased frequency of HLA-DRB1*04 and DRB1*14 alleles in patients with PV compared with healthy control subjects ...
The allele HLA-DRB1*14 was found to be associated with susceptibility to syphilis in the Chinese population. ... Methods: A polymerase chain reaction with sequence-specific primers (PCR-SSP) method was used to genotype HLA-DRB1 alleles in ... Association of the HLA-DRB1 locus with syphilis in a Chinese population Hong-Wei Jiang 1 , Hong-Qing Tian, Hong Liu, Na Li, Yi ... Association of the HLA-DRB1 locus with syphilis in a Chinese population Hong-Wei Jiang et al. Int J Infect Dis. 2011 May. . ...
HLA Typing Genotypes at the HLA loci DRB1, 3, 5, and 7 and D R Q l were determined by allele-specific polymerase chain reaction ... The correlation between TNFm overproduction and the HLA DRB1*15 allele may prove to be important in the pathogenesis of MS, but ... Statistics T h e nonparametric Mann-Whitney U test was used to compare the mean cytokine production levels in MS and NS or HLA ... No significant HLA correlations were observed for other cytokines. Cytokine Profile of MBP-Reactive T-cell Clones aJter ...
In the combined Amerind sample the HLA-DRB1*0407 and HLA- DRB1*1402 alleles occurred in the highest frequencies (38% and 22%, ... The high frequencies of both HLA-DRB1*0407 and HLA-DRB1*1602 alleles, in conjunction with their absence in Siberian samples, ... In the combined Amerind sample the HLA-DRB1*0407 and HLA- DRB1*1402 alleles occurred in the highest frequencies (38% and 22%, ... The high frequencies of both HLA-DRB1*0407 and HLA-DRB1*1602 alleles, in conjunction with their absence in Siberian samples, ...
HLA-DQB1 antigen Medicine & Life Sciences * HLA-DRB1 Chains Medicine & Life Sciences ... Using next-generation sequencing for characterising HLA-DRB1 and DQB1 loci in a cohort of Colombian women. HLA. 2019 Nov;94(5): ... Using next-generation sequencing for characterising HLA-DRB1 and DQB1 loci in a cohort of Colombian women. In: HLA. 2019 ; Vol ... Unfortunately, few reports are available regarding HLA-DRB1 and DQB1 diversity in Colombia to date. HLA-DRB1 and DQB1 diversity ...
Humans , Genetic Association Studies , HLA-DRB1 Chains/genetics , HLA-DRB1 Chains/analysis , Lupus Erythematosus, Systemic/ ... Asociación genética entre los Loci HLA-DRB1 y HLA-DQB1 con la susceptibilidad a padecer Lupus eritematoso sistemático / Genetic ... Asociación genética entre los Loci HLA-DRB1 y HLA-DQB1 con la susceptibilidad a padecer Lu ... representados por los loci HLA-DRB1 y HLA-DQB1 con la susceptibilidad a LES. METODOLOGÍA:. Se trabajó con 85 pacientes lúpicos ...
N2 - OBJECTIVE: Five loci-the shared epitope (SE) of HLA--DRB1, the PTPN22 gene, a locus on 6q23, the STAT4 gene and a locus ... AB - OBJECTIVE: Five loci-the shared epitope (SE) of HLA--DRB1, the PTPN22 gene, a locus on 6q23, the STAT4 gene and a locus ... OBJECTIVE: Five loci-the shared epitope (SE) of HLA--DRB1, the PTPN22 gene, a locus on 6q23, the STAT4 gene and a locus mapping ... abstract = "OBJECTIVE: Five loci-the shared epitope (SE) of HLA--DRB1, the PTPN22 gene, a locus on 6q23, the STAT4 gene and a ...
However it can pair with, in any individual, the beta chain from 3 different DR beta loci, DRB1, and two of any DRB3, DRB4, or ... HLA class II histocompatibility antigen, DR alpha chain is a protein that in humans is encoded by the HLA-DRA gene. HLA-DRA ... There are two different HLA-DRA chains in the human population coded by three different DRA alleles: HLA-DR ENSG00000228987, ... DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. ...
HLA-DRB1 Chains Medicine & Life Sciences * Phenotype Medicine & Life Sciences * Genetic Association Studies Medicine & Life ... there was associations of HLA-DRB1 with total brain volume (. p= 0.0006) and BIN1 with HV (. p= 0.00089). Aweighted AD genetic ... there was associations of HLA-DRB1 with total brain volume (. p= 0.0006) and BIN1 with HV (. p= 0.00089). Aweighted AD genetic ... there was associations of HLA-DRB1 with total brain volume (. p= 0.0006) and BIN1 with HV (. p= 0.00089). Aweighted AD genetic ...
HLA-DRB1 Chains Medicine & Life Sciences * Alleles Medicine & Life Sciences * Single Nucleotide Polymorphism Medicine & Life ... Further, investigating the functional links within the C6orf10/LOC101929163/HLA-DRB1 pathway will be critical to better define ... Further, investigating the functional links within the C6orf10/LOC101929163/HLA-DRB1 pathway will be critical to better define ... Further, investigating the functional links within the C6orf10/LOC101929163/HLA-DRB1 pathway will be critical to better define ...
The HLA-DRB1 locus within the major histocompatibility complex (MHC) at 6p21.3 has been identified as a susceptibility gene for ... The HLA-DRB1 locus was genotyped together with 2,360 single-nucleotide polymorphisms in the MHC region. Logistic regression was ... HLA-DR Antigens. *HLA-DRB1 Chains. LinkOut - more resources. Full Text Sources. *Wiley ... a nonsynonymous change in the VARS2L locus, approximately 1.7 Mb telomeric of DRB1; rs2442728, upstream of HLA-B, approximately ...
HLA A*0201Cw*0702 : B*0702 : DRB1*1501 : DQA1*0102 : DQB1*0602 The gene-allele representation of the haplotype is: HLA A*0301Cw ... The haplotype can be written in an extended form covering the major histocompatibility loci as follows: HLA Cw*0702 : B*0702 : ... The other B7-DR2-DQ1 stems from the fact that DQ1 is an alpha chain serotype that is now covered by the beta chain type DQ5 and ... HLA B7-DR15-DQ6 is a representation(by serotype) of a common HLA haplotype found in Western Eurasia. ...
Four-locus high-resolution HF (HLA-A, HLA-B, HLA-C, and HLA-DRB1) were used for adult donors. The HF and effective adult-donor ... HLA-A, -B, -C and -DRB1 genotypes were obtained using polymerase chain-reaction sequence-specific oligonucleotide probe methods ... HLA-A, -B, -C and -DRB1. Deviation from HWEP detected at the HLA-A locus is derived primary from an excess of A*02:01 + A*02:03 ... The cumulative frequency distributions for HLA-A, -B, -C and -DRB1 loci in this Hong Kong Chinese cohort are shown in Table 4. ...
The technique amplifies a particular HLA gene locus such as HLA-A, HLA-B, or HLA-DRB1. Primers are generally designed in exons ... More recently, new assays were developed for HLA-B. 57:01 typing on a quantitative polymerase chain reaction (qPCR) platform [ ... HLA-DQA1, HLA-DQB1, HLA-DRA, and HLA-DRB1.. HLA class I molecules are expressed in almost all the cells and are responsible for ... HLA-A. 02:01 in all patients (OR = 2.2; ) and HLA-B. 18:01 with nominal significance independently of HLA-A. 02:01 and HLA-DQB1 ...
... and -DQB1 loci by a polymerase chain reaction with low resolution sequence-specific primers. HLA-DRB1*07 and HLA-DRB1*11 ... HLA typing was performed in HLA-DRB1, -DQA1, ... HLA-DRB1*15 allele was a protective allele. Due to the ... Using multiplex real-time polymerase chain reaction method, the HBoV1 genomic sequence was detected in 60.0% of NPA samples, ... HHV-6 was detected in peripheral blood mononuclear cell (PBMC) DNA samples using nested polymerase chain reaction (nPCR). Gene ...
... and amino acid residues 86 and 98 of the DRβ chain were protectively associated with AOSD. MEFV variants were identified in 49 ... in a Japanese population by determining the DRB1 allele distributions. DRB1 genotyping of 96 patients with AOSD and 1,026 ... The DRB1*15:01 and DR5 are both associated with AOSD susceptibility in Japanese subjects. A protective association between the ... We assessed whether DRB1 alleles are associated with susceptibility to particular clinical features of adult onset Stills ...
HLA-DRB1 Chains * Alleles * A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Zhang, M., ... A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. International FTD-Genomics Consortium (IFGC ... Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia. Meeter, L. H. H., Steketee, R. M. E., ... Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia. Meeter, L. H. H., Steketee, R. M. E., ...
It was found that HLA-DRB1*04, *0401, *0404, *0405 and *0410 are risk factors for RA in Chinese populations. ESR, CRP, RF, Anti ... This study was performed to systematically summarize results on the association of HLA-DRB1 with rheumatoid arthritis (RA) in ... Chinese populations with RA had significantly higher frequencies of HLA-DRB1*04, *0401, *0404, *0405 and *0410 than controls ( ... We examined the case-control studies concerned about the relationship between HLA-DRB1and RA and differences of clinical and ...
HLA-DRB1 Chains Alleles Single Nucleotide Polymorphism A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 ... A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Zhang, M., Ferrari, R., Tartaglia, M. C., ... A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. International FTD-Genomics Consortium (IFGC ... Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study. The Genetic ...
  • ADRs induced by several drugs have been shown to have significant associations with specific alleles of human leukocyte antigen (HLA) genes. (hindawi.com)
  • In human, MHC is also known as human leukocyte antigen (HLA) complex, which consists more than 200 genes on chromosome 6 and can be categorized into three subgroups: class I, class II, and class III. (hindawi.com)
  • The association of human leukocyte antigen (HLA) with syphilis has been reported in several populations, but not in the Chinese population. (semanticscholar.org)
  • The Past, Present and Future of HLA Typing ( The Human Leukocyte Antigen (HLA) regi. (bio-medicine.org)
  • The Human Leukocyte Antigen (HLA) region located on the short arm. (bio-medicine.org)
  • The Human Leukocyte Antigen (HLA) region, located on the short arm of chromosome 6 (6p21.3), is a highly polymorphic region containing about 200 genes. (bio-medicine.org)
  • Identified genetic risk factors within the major histocompatibility complex (MHC), such as butyrophilin-like ( BTNL)2 , human leukocyte antigen ( HLA)-DRB1*03 and HLA-DRB1*15 , and protective factors, such as HLA-DRB1*01 , are found in many populations [ 1 , 2 ]. (ersjournals.com)
  • A selective advantage against infectious disease associated with increased heterozygosity at the human major histocompatibility complex [human leukocyte antigen ( HLA ) class I and class II] is believed to play a major role in maintaining the extraordinary allelic diversity of these genes. (sciencemag.org)
  • The major histocompatibility complex, known as the human leukocyte antigen (HLA) complex in humans, forms an integral component of adaptive T cell immunity by presenting self and non-self peptides to the T cell receptor, thereby allowing clonal expansion of responding peptide-specific CD4+ and CD8+ T cel s. (who.int)
  • Among the most important factors that affect the outcome of the HCT is the degree of human leukocyte antigen (HLA) matching between the recipient and the related or unrelated donor, or cord blood unit. (umich.edu)
  • We examined the relationships of human leukocyte antigen (HLA) and related polymorphisms to glioblastoma multiforme in adult Caucasians (non-Hispanic Whites) from the San Francisco Bay area. (aacrjournals.org)
  • Human leukocyte antigen (HLA) polymorphisms are known to alter susceptibility to and/or the course of various inflammatory diseases, immune disorders, infectious diseases, and malignancies ( 27 ). (aacrjournals.org)
  • The HLA-DRB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. (medlineplus.gov)
  • The HLA-DPB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. (medlineplus.gov)
  • Investigations of genetic risk factors have been provided evidences for association between susceptibility to genetically autoimmune diseases such as MS and polymorphisms in the Human Leukocyte Antigen (HLA) complex especially, DRB1*15:01 and DQB1*06:02 on chromosome 6p21 [2]. (symbiosisonlinepublishing.com)
  • abstract = "{\textcopyright} 2015 John Wiley & Sons A/S. This is the first report on human leukocyte antigen (HLA) allele and haplotype frequencies at three class I loci and two class II loci in unrelated healthy individuals from two ethnic groups, 170 Burmese and 200 Karen, originally from Burma (Myanmar), but sampled while residing in Thailand. (edu.au)
  • Although HLA-DRB1 and PTPN22 are well-established susceptibility loci, other genes that confer a modest level of risk have been identified recently. (nih.gov)
  • A nested case-control study was performed within the Northern Sweden Health and Disease study cohort to analyse the presence of shared epitope (SE) genes, defined as HLA-DRB1*0404 or DRB1*0401, and of anti-CCP antibodies and RFs in individuals who subsequently developed RA. (biomedcentral.com)
  • The SE genes were identified by polymerase chain reaction sequence-specific primers. (biomedcentral.com)
  • In the present study, we have evaluated the significance of the presence of SE genes, defined as DRB1*0404 or DRB1*0401, in relation to anti-CCP antibodies and RFs in individuals who subsequently developed RA. (biomedcentral.com)
  • Different studies have investigated the association of HLA genes with MG, reporting nonhomogenous results in terms of association in different populations and disease subgroups [ 4 - 9 ]. (hindawi.com)
  • Challenges in mapping non-HLA-DRB1 major histocompatibility genes in rheumatoid arthritis: comment on the article by Vignal et al. (nih.gov)
  • In this review, we summarized the alleles of HLA genes which have been proposed to have association with ADRs caused by different drugs. (hindawi.com)
  • HLA genes are found to be numerous and highly polymorphic in order to bind various kinds of peptides originated from self or foreign antigens. (hindawi.com)
  • 1. A marker DR-beta-I DNA sequence from the HLA class II beta genes associated with insulin-dependent diabetes mellitus and with DR4-associated susceptibility to Pemphigus vulgaris. (google.com.au)
  • 5. Marker DQ-beta DNA sequences from the HLA class II beta genes associated with DRw6-associated susceptibility to Pemphigus vulgaris. (google.com.au)
  • Distribution of HLA-A, -B and -DRB1 genes and haplotypes in the Tujia population living in the Wufeng Region of Hubei Province, China. (openrepository.com)
  • Allelic and haplotypic diversity of HLA-A, -B, -C, and -DRB1 genes in Koreans defined by high-resolution DNA typing]. (openrepository.com)
  • The HLA region is the human equivalent of the Major Histocompatibility Complex (MHC), and as such contains a set of genes that serve as the backbone of antigen presentation. (bio-medicine.org)
  • The Class I proteins, classically involved in presenting endogenous antigens to CD8+ T-cells, are expressed by genes located in the HLA-A, -B and C loci. (bio-medicine.org)
  • This supports the concept that multiple genes in the HLA region can affect type 1 diabetes susceptibility. (diabetesjournals.org)
  • We have investigated the contribution of HLA DRB1 and DQB genes by the strategies of non-parametric linkage analysis (affected sibling pair method) as well as association study. (qxmd.com)
  • In Crohn's disease, important susceptibility genes are likely to exist outside the HLA region. (qxmd.com)
  • In addition, we constructed haplotypes containing MHC class II genes ( HLA-DRB1 and - DPB1 ) and rs2076530, and studied the influence of MHC markers and their combinations on disease susceptibility. (ersjournals.com)
  • HLA class I and class II loci located within the human major histocompatibility complex (MHC) comprise the most polymorphic set of genes known in humans ( 1-3 ). (sciencemag.org)
  • Evolutionary and population studies have led to the general idea that the great diversity and even distribution of allelic frequencies observed in the class I and class II genes of the MHC ( HLA in humans) are maintained through selective forces, such as infectious disease morbidity ( 4 , 5 ). (sciencemag.org)
  • The HLA genes are the most polymorphic group known in the human genome. (biomedcentral.com)
  • Another important feature of HLA genes is the presence of Linkage Disequilibrium (LD) between the alleles of the different loci. (biomedcentral.com)
  • Several statistical methods have been proposed, but it is unclear how accurate each method is for haplotype estimation on HLA genes. (biomedcentral.com)
  • HLA-A, -B, and -C. The HLA-B locus is the chains are the variable regions within the antigen (HLA) complex in humans, is most polymorphic of the class I genes,[4] class I genes. (who.int)
  • 3] The turn are recognised by the TCR on CD8+ adaptive immune responses through binding classic HLA class I genes consist of eight T cel s. (who.int)
  • At 4.7 million nucleotides in length and ~300 genes the locus had resisted the effects of recombination, either as a consequence of recombination-obstruction within the DNA, as a consequence of repeated selection for the entire haplotype, or both. (wikipedia.org)
  • Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. (wikipedia.org)
  • The chemokine receptor and chemokine genes along with the HLA genotype can serve as predictors of HIV-1 outcome for classification of HIV-1-infected subjects as LT-NPs or progressors. (bloodjournal.org)
  • 3 The first candidates were the major histocompatibility complex genes (MHC-HLA in humans). (bloodjournal.org)
  • In particular, DRB1*15 is a significant predisposing factor for MS development and may influence the role of other genes. (ac.ir)
  • The HLA-DRB1 gene belongs to a group of MHC genes called MHC class II. (medlineplus.gov)
  • Recently other candidate gene approaches or Genome wide association studies suggested new loci outside HLA region such as cytokines and their receptors genes as suspected genes for further investigations, although these associations could not be demonstrated by other studies which their result varied widely in different populations. (symbiosisonlinepublishing.com)
  • However, the presence of important immunoregulatory genes within the HLA Class II and III regions raises the possibility that these genes harbour the primary susceptibility locus. (edu.au)
  • Genotyping was performed using polymerase chain reaction and sequence specific primers for HLA Class I and II alleles and polymorphisms within the TAP1, TAP2, tumour necrosis factor (TNF), lymphotoxin α (LTα), heat shock protein (HSP)70-1, HSP70-2 and HSP70-Hom genes. (edu.au)
  • CONCLUSIONS These results show that, of the polymorphisms tested within the MHC, GD is most strongly associated with DRB1*03, and associations with other immunoregulatory genes previously described in Caucasian subjects most likely reflect linkage disequilibrium. (edu.au)
  • Role of nonclassical class I genes of the chicken major histocompatibility complex Rfp-Y locus in transplantation immunity. (biomedsearch.com)
  • Investigating the role of the HLA-Cw*06 and HLA-DRB1 genes in susceptibility to psoriatic arthritis: comparison with psoriasis and undifferentiated inflammatory arthritis. (nih.gov)
  • Human DRB genes encode β chains of the major histocompatibility complex (MHC) class II molecules. (elsevier.com)
  • To elucidate the origin of human DRB loci and haplotypes, intron 1 sequences approximately 5000 bp in length were determined for three DRB1 alleles (DRB1*03, DRB1*04, and DRB1*15) and five DRB genes (DRB2, DRB3, DRB4, DRB5, and DRB7). (elsevier.com)
  • The combined data indicate that the ancestor of the human DRB genes was HLA- DRB1*04-like and that the DRB2, DRB7, DRB5, and DRB3 genes arose from this ancestor by four rounds of duplication 58, 56, 53, and 36 million years (MY) ago, respectively. (elsevier.com)
  • The DRB4 gene may have arisen 46 MY ago by a deletion from the DRB1 and DRB2 genes and the DRB6 gene is probably an allele at the DRB2 locus. (elsevier.com)
  • Klein, Jan. / HLA-DRB intron 1 sequences : Implications for the evolution of HLA-DRB genes and haplotypes . (elsevier.com)
  • DNA was extracted from each blood sample, and the IL-4 and IL-4R genes were amplified using polymerase chain reaction (PCR) with gene-specific primers. (medsci.org)
  • HLA molecules are linked with adaptive immunity, where they act to present peptide antigens to antigen receptors on T lymphocytes [ 7 ]. (biomedcentral.com)
  • Collectively, we provide a molecular basis for the interplay between citrullination of self-antigens and HLA polymorphisms that shape peptide-HLA-DR4 binding affinities in RA. (rcsb.org)
  • In contrast, the Class II proteins, which associate with and present exogenous antigens to CD4+ T-cells, are expressed by the HLA DR, -DQ and DP loci. (bio-medicine.org)
  • Clone REA332 recognizes all major histocompatibility class (MHC) class II HLA-DR, DP, and most DQ antigens. (miltenyibiotec.com)
  • Combination of HLA class I (HLA-A1, HLA-A2, HLA-B14, HLA-B17, HLA-B27) and class II antigens (HLA-DR5 and HLA-DR6) have been correlated with low rates of disease progression. (bloodjournal.org)
  • 4-7 In contrast, the presence of HLA-B35, HLA-DR1, HLA-DR3, HLA-DQ1 antigens was significantly associated with a bad prognosis and a rapid progression to acquired immunodeficiency syndrome (AIDS). (bloodjournal.org)
  • The HLA system (Human Leukocyte Antigens System) is the main human histocompatibility complex. (uhkt.cz)
  • Description: The W6/32 monoclonal antibody reacts with the human major histocompatibility complex (MHC) class I, HLA-A, B, C. MHC class I antigens associated with beta 2-microglobulin are expressed by all human nucleated cells and are central in cell-mediated immune response and tumor surveillance. (thermofisher.com)
  • HLA-class I major histocompatibility (MHC) antigens are intrinsic membrane glycoproteins expressed on nucleated cells and noncovalently associated with an invariant beta2 microglobulin. (thermofisher.com)
  • Human HLA-class I antigens are represented by HLA-A, HLA-B and HLA-C molecules. (thermofisher.com)
  • By the two-, three-, four-, five- and six-locus allelic association analyses extracted from the HLA-A to -DPB1 locus, 26 HLA-Cw-B haplotypes, 25 HLA-DRB1-DQB1 haplotypes, 42 HLA-Cw-B-DRB1 haplotypes, 37 HLA-Cw-B-DRB1-DQB1 haplotypes, 29 HLA-A-Cw-B-DRB1-DQB1 haplotypes and 21 HLA-A-Cw-B-DRB1-DQB1-DPB1 haplotypes with the frequencies of higher than 0.005 were recognized. (cdc.gov)
  • HLA class I (A, B, C) and class II (DRB1, DQA1, DQB1, DPB1) alleles and haplotypes in the Han from southern China. (cdc.gov)
  • The alleles and haplotypes found with NGS agreed with that found in previous reports involving lower resolution for the Colombian population, and greater genetic variability was found, especially concerning DRB1. (urosario.edu.co)
  • Three-loci haplotype analysis revealed that HLA A30- B13- DRB107 (4.11%), A02 -B46 -DRB109 (2.57%) and A33 -B58 -DRB117 (1.32%) were the most common haplotypes in this population. (elsevier.com)
  • Four two-loci haplotypes, including HLA-A30-B43, A30-B53, B43-DRB107 and B73-DRB104 had significant linkage disequilibrium (relative linkage disequilibrium parameter equals to 1). (elsevier.com)
  • Background: Previous studies indicate that the frequency distributions of HLA alleles and haplotypes vary from one ethnic group to another or between the members of the same ethnic group living in different geographic areas. (openrepository.com)
  • Significantly high linkage disequilibrium was observed in six two-locus haplotypes, with their corresponding relative linkage disequilibrium parameters equal to 1. (openrepository.com)
  • This study has demonstrated strong association of major histocompatibility complex haplotypes with increased and reduced risk of HPV-associated cervical cancers, with findings implicating both HLA Class I and Class II loci. (antibodies-online.com)
  • Susceptibility is associated with the MHC class II region, especially HLA-DRB5*0101-HLA-DRB1*1501-HLA-DQA1*0102-HLA-DQB1*0602 haplotypes(hereafter DR2), which dominate genetic contribution to MS risk. (ox.ac.uk)
  • Three-locus haplotypes demonstrated that HLA-DRB1*1501 and HLA-DQB1*0602 each influence risk. (ox.ac.uk)
  • Transmissions of rare morcellated DR2 haplotypes showed no interaction with HLA-DQA1*0102. (ox.ac.uk)
  • Incomplete haplotypes bearing only HLA-DRB1*1501 or HLA-DQB1*0602 did not predispose to MS. Balanced reciprocal transmission distortion can mask epistatic allelic association. (ox.ac.uk)
  • Of 29 affected sibling pairs studied, only one pair shared no DRB1 DQB haplotypes. (qxmd.com)
  • We replicate previously suggested association signals for oligoclonal band status in the major histocompatibility complex region for the rs9271640*A-rs6457617*G haplotype, correlated with HLA-DRB1*1501, and rs34083746*G, correlated with HLA-DQA1*0301 (P comparing two haplotypes = 8.88 × 10−16). (edu.au)
  • The accuracy of two of the leading methods of computational haplotype inference - Expectation-Maximization algorithm based (implemented in Arlequin V3.0) and Bayesian algorithm based (implemented in PHASE V2.1.1) - was compared using a set of 122 HLA haplotypes (A-B-Cw-DQB1-DRB1) determined through direct counting. (biomedcentral.com)
  • Despite the large number of alleles at each expressed loci, the number of haplotypes observed in populations is smaller than the expected. (biomedcentral.com)
  • The length of the haplotype is remarkable because of the rapid rate of evolution at the HLA locus should degrade such long haplotypes. (wikipedia.org)
  • In humans, both nasopharyngeal carcinoma ( 28 - 30 ) and cervical cancer ( 31 - 33 ) have been convincingly associated with specific HLA alleles and haplotypes. (aacrjournals.org)
  • Indeed, specific HLA class II haplotypes (e.g. (aacrjournals.org)
  • The aim of the study was to investigate the distribution of HLA-B*44 alleles and determine the common HLA-B*44~C haplotypes in the Croatian population. (mebm.eu)
  • In this study the polymorphism of HLA-DRB4 alleles and HLA-DRB1-DRB4 haplotypes among Croatian cadaveric organ donors (N = 144) was analyzed. (unizg.hr)
  • The Rfp-Y class I ( YF) alleles in these three haplotypes are highly polymorphic, and RT-PCR shows that at least two YF loci are expressed in each subline. (biomedsearch.com)
  • Although nine DRB loci have been mapped to the short arm of chromosome 6, an individual chromosome contains only one to five loci and is classified into one of five major haplotypes. (elsevier.com)
  • The present-day HLA-DR haplotypes were derived from three principal ancestral haplotypes: DRB1-DRB2, DRB1-DRB5, and DRB1-DRB7. (elsevier.com)
  • In Burmese, five HLA-B*15 haplotypes with different HLA-A and HLA-DR/DQ combinations were detected with three of these not previously reported in other Asian populations. (edu.au)
  • To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. (uniprot.org)
  • Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). (uniprot.org)
  • HLA class II histocompatibility antigen, DR alpha chain is a protein that in humans is encoded by the HLA-DRA gene. (wikipedia.org)
  • It was proven to be associated with (histocompatibility locus antigen) HLA region strongly, especially with HLA-DRB1 alleles [ 3 ]. (biomedcentral.com)
  • Description: The LN3 mAb reacts with the human major histocompatibility complex (MHC) class II, HLA-DR. HLA-DR is expressed on the surface of human antigen presenting cells (APC) including B cells, monocytes, macrophages, DCs, and activated T cells. (fishersci.com)
  • HLA-DR is expressed primarily on antigen presenting cells such as B lymphocytes, monocytes, macrophages, thymic epithelial cells and activated T lymphocytes. (fishersci.com)
  • Together, they form a functional protein complex called the HLA-DR antigen-binding heterodimer. (medlineplus.gov)
  • Graves' disease (GD) is associated with the histocompatibility leucocyte antigen (HLA) haplotype A*01-B*0801-DRB1*0301-DQA1*0501-DQB1*0201 (or B8/DR3) whereas autoimmune hypothyroidism (AIH) has been weakly associated with HLA DRB1*03, *04 and *11/*12 alleles (or DR3, DR4 and DR5). (edu.au)
  • at high resolution for HLA-DQB1 locus by PCR with sequence-specific primers (PCR-SSPS). (hindawi.com)
  • Therefore, the HLA allele DQB1*05:02 might be considered as a susceptibility marker for LOAb among Italians. (hindawi.com)
  • HLA-DRB1 and HLA-DQB1 alleles were imputed, and associations between ANA positivity and the SNPs or the HLA alleles associated with SLE were analyzed. (cdc.gov)
  • A total of 20 HLA-A alleles, 16 HLA-Cw alleles, 38 HLA-B alleles, 27 HLA-DRB1 alleles, 15 HLA-DQB1 alleles and 12 HLA-DPB1 alleles were detected. (cdc.gov)
  • Most of HLA-DRB1 alleles showed strong associations with single HLA-DQB1 alleles, but DRB1*0802 and DRB1*1401 were associated with two different DQB1 alleles. (cdc.gov)
  • Unfortunately, few reports are available regarding HLA-DRB1 and DQB1 diversity in Colombia to date. (urosario.edu.co)
  • HLA-DRB1 and DQB1 diversity was identified in this study using next-generating sequencing (NGS) on a cohort of Colombian women. (urosario.edu.co)
  • Cervical samples taken from 276 women were used for typing DRB1 and DQB1 loci by Illumina MiSeq. (urosario.edu.co)
  • Forty-seven DRB1 alleles and 14 DQB1 alleles were identified. (urosario.edu.co)
  • DRB1*04:07:01G and DQB1*03:02:01G alleles occurred most frequently in the target population. (urosario.edu.co)
  • Determinar la asociación genética entre los polimorfismos del Complejo Principal de Histocompatibilidad (CPH) representados por los loci HLA-DRB1 y HLA-DQB1 con la susceptibilidad a LES. (bvsalud.org)
  • se obtuvo DNA humano a partir de sangre periférica, se realizó un PCR -SSP de baja y alta resolución para tipificar molecularmente a los loci HLA-DRB1 y HLA-DQB1. (bvsalud.org)
  • Los alelos que representan riesgo de padecer LES en la muestra estudiada son HLA-DRB1*0301, 0404, 0901 y HLA-DQB1*0303, 0201. (bvsalud.org)
  • Los alelos que tiene un carácter protector a la enfermedad son HLA-DRB1*0802 y HLA-DQB1*0402. (bvsalud.org)
  • To determine the genetic association between polymorphisms of the Major istocompatibility Complex loci represented by the HLA-DRB1 and HLA-DQB1 with susceptibility to SLE. (bvsalud.org)
  • Human DNA was obtained from peripheral blood , PCR -SSP low and high resolution molecularly performed to establish the loci HLA-DRB1 and HLA-DQB1. (bvsalud.org)
  • The alleles representing LES risk in the study sample are HLA-DRB1 *0301, *0404, *0901 and HLA-DQB1*0303, *0201. (bvsalud.org)
  • The alleles having a protective character to the disease are HLADRB1* 0802 and HLA-DQB1*0402. (bvsalud.org)
  • The haplotype can be written in an extended form covering the major histocompatibility loci as follows: HLA Cw*0702 : B*0702 : DRB1*1501 : DQA1*0102 : DQB1*0602 The older literature may describe this haplotype in two different ways. (wikipedia.org)
  • To elucidate the relative importance of the HLA-DR and HLA-DQ loci in conferring genetic predisposition to rheumatoid arthritis (RA).HLA-DRB1 and HLA-DQB1 alleles were typed in a set of 685 patients with RA using sequence-specific polymerase chain reaction. (ox.ac.uk)
  • No HLA-DRB1 independent association of the HLA-DQB1 alleles, implicated in predisposing to RA, was evident.These data corroborate the shared epitope hypothesis of susceptibility to RA and provide strong evidence for the DRB1 locus as the primary RA susceptibility factor in the HLA region. (ox.ac.uk)
  • Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility. (ox.ac.uk)
  • HLA-DRB1*15 and HLA-DQB1*0602, nearly always located together on a small ancestral chromosome segment, are strongly MS-associated. (ox.ac.uk)
  • Two Canadian cohorts (n = 830 and n = 438 trios) genotyped for HLA-DRB1, HLA-DQA1 and HLA-DQB1 alleles were tested for association using TDT. (ox.ac.uk)
  • DPB1*0301 was associated in all three groups, even after accounting for LD with DRB1-DQB1. (diabetesjournals.org)
  • Alleles from the HLA-B*07:02-DRB1*15:01-DQA1*01:02-DQB1*06:02 haplotype were associated with higher (lowest p = 2.14 × 10(−7)) and HLA-B*44:02 with lower (β = −0.35 [−0.54 to −0.17], p = 1.38 × 10(−2)) immunoglobulin G levels. (mdc-berlin.de)
  • HLA DRB1 and DQB1 gene-typing was performed by polymerase chain reaction with sequence-specific primers. (qxmd.com)
  • These differences were maintained when subjects were stratified according to the HLA class II phenotype, in particular when patients and controls were matched for the presence of the predisposing HLA DQB1*02 (DQ2) allele or HLA-DQA1*0501/DQB1*02 heterodimer. (bmj.com)
  • In this study, we have assessed the combined effects of the HLA - DQB1/DRB1 and INS genotypes in 944 type 1 diabetic patients and 1,023 control subjects, all from Sardinia. (diabetesjournals.org)
  • Within the HLA complex, variation at the HLA-DQB1 and - DRB1 loci dominates the association with the disease ( 3 , 4 ). (diabetesjournals.org)
  • A large body of studies supports the direct involvement of HLA-DRB1 , DQB1 , and INS -VNTR variation in type 1 diabetes. (diabetesjournals.org)
  • In the case of DRB1-DQB1 , a correlation of polymorphic amino acids in the peptide-binding active site of the molecules with susceptibility and resistance to disease was observed ( 19 , 20 ). (diabetesjournals.org)
  • For these patients the high resolution typing for HLA-A, B, C, DRB1,3,4,5, DQB1 a searching request is submitted to the National Marrow Donor Program (NMDP) and other registries around the world, to find a matched unrelated donor among the nearly 18.5 million voluntary donors and more than 590,000 cord blood units. (umich.edu)
  • Background: Recent genome-wide association studies have shown that cytokine gene polymorphisms may play an important role in the pathogenesis of multiple sclerosis (MS). Several studies have revealed that alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. (ac.ir)
  • DRB1*1501-DQB1*0602) may differentially influence the risk of cervical neoplasia by directing immune response to HPV16-specific epitopes ( 34 - 36 ). (aacrjournals.org)
  • Routinely we perform genotyping of the most important transplant loci of HLA class I and II: HLA-A, -B, -C, -DRB1 and -DQB1 in patient indicated for allogeneic stem cell transplantation, their related donors and selected unrelated donors from the Czech and foreign stem cell donor registries. (uhkt.cz)
  • Positive associations were also seen for DRB1*03 linked alleles, B*0801, DRB3*01/02, DQA1*05, DQB1*02 and DPB1*0101 (OR 2·3-3·4). (edu.au)
  • Aleli lokusa HLA-DRB1 i -DQB1 određeni su metodom lančane reakcije polimerazom i probama specifičnim za jedan ili grupu alela HLA (engl. (unizg.hr)
  • Među ispitanicim pozitivnim za jedan od alela skupine HLA-DRB1*04 nije otkrivena statistički značajna razlika u raspodjeli alela DRB4 s obzirom na prisustvo alela DQB1. (unizg.hr)
  • HLA-DRB1 and -DQB1 alleles were determined by polymerase chain reaction sequence specific oligos for one allele or a group of HLA alleles (method: PCR-SSO). (unizg.hr)
  • Among individuals positive for one of the HLA-DRB1*04 alleles no statistically significant difference was detected in the distribution of the HLA-DRB4 alleles given the presence of the DQB1 alleles. (unizg.hr)
  • This locus contains the ORMDL3 gene, which is an allergen and cytokine (IL-4/IL-13)-inducible gene implicated in epithelial cell remodeling and sphingolipid metabolism to affect bronchial hyperreactivity. (merckmanuals.com)
  • Gene frequencies and haplotypic associations within the entire HLA classical loci elucidated at the high resolution (four-digital) allelic level will provide useful information on anthropology, marrow donor registry, legal medicine and disease-association studies. (cdc.gov)
  • OBJECTIVE: Five loci-the shared epitope (SE) of HLA--DRB1, the PTPN22 gene, a locus on 6q23, the STAT4 gene and a locus mapping to the TRAF1/C5 genetic region--have now been unequivocally confirmed as conferring susceptibility to RA. (elsevier.com)
  • Furthermore, replacing SE (which requires full subtyping at the HLA-DRB1 gene) with DRB1*1/4/10 carriage resulted in little further loss of information (correlation coefficient between models = 0.93). (elsevier.com)
  • The polypeptide subunit encoded by this gene belongs to the HLA class II alpha chain paralogues. (wikipedia.org)
  • The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. (wikipedia.org)
  • Gene expression studies of frontal cortex tissues from 25 autopsy cases affected by amyotrophic lateral sclerosis revealed that the G-allele of rs9357140 is associated with increased brain expression of LOC101929163 (a non-coding RNA) and HLA-DRB1 (involved in initiating immune responses), while the A-allele is associated with their reduced expression. (elsevier.com)
  • For example, hypersensitivity to abacavir, a drug used for treating of human immunodeficiency virus (HIV) infection, has been proposed to be associated with allele 57:01 of HLA-B gene (terms HLA-B 57:01 ). (hindawi.com)
  • A total of more than 1500 alleles of HLA-B gene have been identified [ 2 ]. (hindawi.com)
  • Gene and haplotype frequencies for the loci HLA-A, B and DRB1 in 11755 north Chinese Han bone marrow registry donors]. (openrepository.com)
  • The alpha chain gene contains 5 exons. (fishersci.com)
  • Tonnelle, DeMars, Long: DO beta: a new beta chain gene in HLA-D with a distinct regulation of expression. (antibodies-online.com)
  • The DPB1 gene encodes the β-chain of the DP molecule, which has similar structure and function to DR and DQ. (diabetesjournals.org)
  • The HLA-DRB1 gene was reported to be associated with anticitrullinated protein/peptide autoantibody (ACPA) production in rheumatoid arthritis (RA) patients. (paperity.org)
  • The HLA-DRB1 gene was typed by PCR-sequence specific oligonucleotides probes (PCR-SSOP), and SE+ alleles were classified into four groups (S1, S2, S3P, S3D) according to the new classification. (paperity.org)
  • Conclusion -The CTLA-4 gene polymorphism is a non-HLA determinant that predisposes to coeliac disease. (bmj.com)
  • Allelic association and functional studies have shown that within IDDM2 , a minisatellite (VNTR) locus in the insulin gene ( INS ) promoter region is likely to represent the etiologic polymorphism ( 10 - 17 ). (diabetesjournals.org)
  • There are many other gene-alleles within the haplotype, including more than 250 coding loci that produce transcripts. (wikipedia.org)
  • The HLA-DRB1 gene provides instructions for making a protein that plays a critical role in the immune system. (medlineplus.gov)
  • The HLA complex is the human version of the major histocompatibility complex (MHC), a gene family that occurs in many species. (medlineplus.gov)
  • The protein produced from the HLA-DRB1 gene, called the beta chain, attaches (binds) to another protein called the alpha chain, which is produced from the HLA-DRA gene. (medlineplus.gov)
  • Researchers have identified hundreds of different versions (alleles) of the HLA-DRB1 gene, each of which is given a particular number (such as HLA-DRB1 *04:01). (medlineplus.gov)
  • Certain variations in the HLA-DRB1 gene have been linked to an increased risk of developing an autoimmune disorder called autoimmune Addison disease. (medlineplus.gov)
  • A particular HLA-DRB1 gene variant called HLA-DRB1*04:04 is the most well-known risk factor for autoimmune Addison disease. (medlineplus.gov)
  • Variations in the HLA-DRB1 gene have been associated with an increased risk of developing multiple sclerosis. (medlineplus.gov)
  • One variant of this gene, called HLA-DRB1*15:01 , is the most strongly linked genetic factor for the risk of multiple sclerosis. (medlineplus.gov)
  • The HLA-DPB1 gene provides instructions for making a protein that plays a critical role in the immune system. (medlineplus.gov)
  • The protein produced from the HLA-DPB1 gene attaches (binds) to the protein produced from another MHC class II gene, HLA-DPA1 . (medlineplus.gov)
  • Researchers have identified hundreds of different versions (alleles) of the HLA-DPB1 gene, each of which is given a particular number (such as HLA-DPB1*03:01 ). (medlineplus.gov)
  • At least one variant of the HLA-DPB1 gene has been associated with granulomatosis with polyangiitis (GPA). (medlineplus.gov)
  • Because the HLA-DPB1 gene is involved in the immune system, changes in it might be related to the autoimmune response and inflammation that damage the lungs, kidneys, and other organs. (medlineplus.gov)
  • However, it is unclear what specific role the HLA-DPB1 gene variant plays in development of this condition. (medlineplus.gov)
  • Variants of the HLA-DPB1 gene are associated with immune reactions to beryllium, a metallic element that can be toxic. (medlineplus.gov)
  • Having variants of the HLA-DPB1 gene that contain the protein building block (amino acid) glutamic acid at position 69 (written as E69) increases the risk of developing beryllium sensitization or chronic beryllium disease. (medlineplus.gov)
  • During the course of its evolution, the DRB1*04 gene acquired an intron 1 segment (including two Alu elements) from a gene that became the ancestor of DRB1*03. (elsevier.com)
  • it was the first asthma risk locus found with whole-genome family linkage studies. (merckmanuals.com)
  • Hardy-Weinberg Equilibrium and linkage disequilibrium (LD) between loci were evaluated. (urosario.edu.co)
  • In-depth investigation of the DQA2 association, however, suggested that it arose through cryptic linkage disequilibrium with an allele of DRB1. (nih.gov)
  • HLA-A, -B and -DRB1 allelic distributions were determined in 104 unrelated healthy Uyghur individuals and haplotypic frequencies and linkage disequilibrium parameters for HLA loci were estimated using the maximum-likelihood method. (openrepository.com)
  • Marked linkage disequilibrium (LD) among these loci makes identification of a specific locus difficult. (ox.ac.uk)
  • These findings implicate epistasis among HLA class II alleles in human immune responses generally, provide partial explanation for intense linkage disequilibrium in the MHC, have relevance to animal models, and demonstrate key roles for DR2-specific interactions in MS susceptibility. (ox.ac.uk)
  • Observed associations could be due to variation in the DPB1 locus itself or to linkage disequilibrium (LD) between DPB1 alleles and other susceptibility loci. (diabetesjournals.org)
  • Type 1 diabetes associations of DPB1 alleles could either be due to changes in the encoded polypeptide chain or to linkage disequilibrium (LD) between DPB1 alleles and other susceptibility loci. (diabetesjournals.org)
  • In ulcerative colitis, the sharing of alleles among affected sibling pairs provided evidence for linkage with DRB1 locus (p = 0.017, chi2 = 5.32). (qxmd.com)
  • However, previous studies have shown conflicting results as to whether HLA-DPB1 also predisposes to sarcoidosis, and whether the BTNL2 association is a result of linkage disequilibrium with HLA-DRB1 [ 6 , 7 ]. (ersjournals.com)
  • In haplotype and linkage disequilibrium analysis the previously published HLA-DRB1 alleles of the subjects were utilised [ 8 ]. (ersjournals.com)
  • Whether it directly contributes to disease susceptibility or represents a marker for a locus in linkage disequilibrium with CTLA-4 needs further investigation. (bmj.com)
  • Whole genome linkage scans have shown that the major histocompatibility complex (MHC)/HLA region on chromosome 6p21 contains the major genetic component of the disease ( IDDM1 ) ( 1 , 2 ). (diabetesjournals.org)
  • We carried out a genomewide association analysis to identify additional genetic loci associated with an increased risk of rheumatoid arthritis. (nih.gov)
  • A common genetic variant at the TRAF1-C5 locus on chromosome 9 is associated with an increased risk of anti-CCP-positive rheumatoid arthritis. (nih.gov)
  • Autoantibodies to cyclic citrullinated peptides (anti-CCP) are present in most patients with rheumatoid arthritis (RA), and associate with HLA-DRB1 shared epitope (SE) alleles. (bmj.com)
  • Could HLA-DRB1 be the protective locus in rheumatoid arthritis? (elsevier.com)
  • Extensive studies in different ethnic groups have associated the susceptibility to development of rheumatoid arthritis (RA) with the third hypervariable region of the major histocompatibility complex (MHC) HLA-DRβl molecule. (elsevier.com)
  • Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci. (nih.gov)
  • This study was performed to systematically summarize results on the association of HLA-DRB1 with rheumatoid arthritis (RA) in China. (biomedcentral.com)
  • The HLA-DRB1 locus is strongly associated with rheumatoid arthritis (RA) susceptibility, whereupon citrullinated self-peptides bind to HLA-DR molecules bearing the shared epitope (SE) amino acid motif. (rcsb.org)
  • Anticitrullinated peptide antibody-positive rheumatoid arthritis (RA) in Indigenous North American populations was independently associated with HLA-DRB1 *14:02. (antibodies-online.com)
  • HLA-DR/DQ haplotype in rheumatoid arthritis: novel allelic associations in UK Caucasians. (ox.ac.uk)
  • We investigated the relevance of this new classification of HLA-DRB1 SE+ alleles in terms of rheumatoid factor (RF) and ACPA production in a sample of French RA patients. (paperity.org)
  • We investigated the relevance of this new classification of HLADRB1 SE+ alleles in terms of rheumatoid factor (RF) and ACPA production in a sample of French RA patients. (paperity.org)
  • Specific alleles of HLA are known to be associated with some diseases (for instance: rheumatoid arthritits, coeliac disease, narcolepsy, etc. (uhkt.cz)
  • Calculations were based on HLA-A, -B, -C, -DRB1 loci high-resolution haplotype frequencies (HF) of up to 21 populations. (ukessays.com)
  • The allele and haplotype frequencies of HLA-A, -B and -DRB1 loci in 10,000 healthy unrelated Han individuals living in the Guanzhong region of the Shaanxi Province were analyzed with the methods of SSO, SSP and SBT. (elsevier.com)
  • HLA-A, HLA-B, HLA-DRB1 allele and haplotype frequencies of 14,529 Chinese Han bone marrow donors living in Dalian, China. (openrepository.com)
  • Overall, the HLA allele and haplotype frequencies detected by polymerase chain reaction sequence-specific primer (PCR-SSP) at five loci (A, B, C, DRB1 and DRQB1) at low resolution showed distinct differences between the Burmese and Karen. (edu.au)
  • The age of the polymorphism and the rate at which new alleles are generated at HLA loci has caused much controversy over the years. (anthropogeny.org)
  • A principal feature of MHC molecules is their allelic polymorphism: the July 2004 ImMunoGeneTics/HLA database release lists 1114 class I and 707 class II molecules ( 3 ). (jimmunol.org)
  • Klein, Jan. / Polymorphism of the HLA-DRB1 locus in Colombian, Ecuadorian and Chilean Amerinds . (elsevier.com)
  • In order to promote the work of the MHC committee and provide a centralised repository of manually curated and annotated sequences, the Immuno Polymorphism Database (IPD) project was established in 2003 by the HLA Informatics Group of the Anthony Nolan Research Institute (Robinson et al. (springer.com)
  • HLA haplotype analysis has been used in population genetics and in the investigation of disease-susceptibility locus, due to its high polymorphism. (biomedcentral.com)
  • HLA-DR beta-chain polymorphism. (wikipedia.org)
  • Objective: To study the impact of interleukin (IL)-2/-330 single nucleotide polymorphism and its combination with HLA-DRB alleles. (ac.ir)
  • Methods: We used sequence-specific, primerpolymerase chain reaction to profile the genetic polymorphism of 130 MS patients and 139 healthy controls from the Iranian population. (ac.ir)
  • We conclude that Rfp-Y has an intermediate role in allograft rejection, likely to be attributable to polymorphism at the class I loci within this region. (biomedsearch.com)
  • The authors identified alpha3128-142 (DIPPCPHGWISLWKG) as the core binding motif of P14 (show S100A9 Antibodies ) to HLA-DRB1 *1501 molecule. (antibodies-online.com)
  • The protective effect of HLA-DRB1*01 in sibling pairs may result from a specific epistatic interaction with the susceptibility allele HLA-DRB1*1501. (ox.ac.uk)
  • HLA-DQA1*0102 increased disease risk when combined with HLA-DRB1*1501 in trans, thereby unambiguously implicating HLA-DQ in MS susceptibility. (ox.ac.uk)
  • The A*0301 bearing haplotype (HLA A3-B7-DR15-DQ6) is described as the longest known multgene haplotype in humans. (wikipedia.org)
  • In humans, MHC class II molecules are encoded by three different loci, HLA-DR, -DQ, and -DP, which display 70% similarity to each other. (miltenyibiotec.com)
  • HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. (uniprot.org)
  • In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. (uniprot.org)
  • Moreover, any poly-epitope vaccine targeting the whole population would, on the same basis, need to bind a range of HLA molecules. (jimmunol.org)
  • The peptide binding site of MHC molecules is composed of a single protein chain for class I and two separate chains in class II. (jimmunol.org)
  • HLA-DRA encodes the alpha subunit of HLA-DR. Unlike the alpha chains of other Human MHC class II molecules, the alpha subunit is practically invariable. (wikipedia.org)
  • HLA class I molecules are expressed in almost all the cells and are responsible for presenting peptides to immune cells. (hindawi.com)
  • Polymorphic residues that form part of the P1 and P9 pockets of the HLA-DR molecules provided a structural basis for the preferential binding of the citrullinated self-peptides to the HLA-DR4 allomorphs. (rcsb.org)
  • HLA-DR, like other MHC class II molecules, is a transmembrane glycoprotein composed of a 36 kDa alpha chain (DRA) and 27 kDa beta chain (DRB). (fishersci.com)
  • MPO (show MPO Antibodies ) complexed with HLA class II molecules is involved in the pathogenesis of MPA as a target for MPO (show MPO Antibodies )-ANCA. (antibodies-online.com)
  • MHC class II molecules consist of an α and β chain and are transported to endosomal-lysosomal compartments by the invariant chain. (miltenyibiotec.com)
  • HLA likewise forms an integral part of the innate immune response through the binding of killer- cell immunoglobulin-like receptor (KIR) molecules, which regulate the response of natural killer (NK) cel s. (who.int)
  • HLA molecules mediate inhibitory or activating stimuli. (who.int)
  • These genetic results are consistent with an interaction between the protein products of the HLA and INS alleles, in which both the affinity of the various HLA class II molecules for a preproinsulin-derived peptide and the levels of this peptide in the thymus act jointly as key regulators of type 1 diabetes autoimmunity. (diabetesjournals.org)
  • These cancers show strong etiologic relationships to infection with EBV and human papillomavirus, respectively, and the associations may well reflect the important role of HLA molecules in modulating immune responses to infectious agents. (aacrjournals.org)
  • HLA allele frequencies were compared with 100 healthy controls. (hindawi.com)
  • Among 19 HLA-B alleles with the high allele frequencies (above 0.007), 9 HLA-B alleles, B*0702, B*1301, B*3701, B*3901, B*4006, B*4403, B*5201, B*5901 and B*6701 were found to be tightly associated with single HLA-Cw alleles. (cdc.gov)
  • No novel DRB1 alleles were found in the total of 17 different alleles characterized, indicating that rapid allelic generation does not occur at the DRB1 loci, in contrast to HLA-B. Comparison between Chilean and Colombian/Ecuadorian samples revealed no major differences in their allelic frequencies. (elsevier.com)
  • In the combined Amerind sample the HLA-DRB1*0407 and HLA- DRB1*1402 alleles occurred in the highest frequencies (38% and 22%, respectively). (elsevier.com)
  • Genetic distance measurement showed the HLA-DRB1 frequencies reported here to agree with findings in other Amerind groups. (elsevier.com)
  • The high frequencies of both HLA-DRB1*0407 and HLA-DRB1*1602 alleles, in conjunction with their absence in Siberian samples, suggest that migratory groups other than Siberians may have been involved in the peopling of the Americas. (elsevier.com)
  • Neighbor-joining phylogenetic tree between the Uyghur group and other previously reported populations was constructed on the basis of standard genetic distances among the populations calculated using the four-digit sequence-level allelic frequencies at HLA-A, HLA-B and HLA-DRB1 loci. (openrepository.com)
  • Allele and phenotype frequencies were compared with those in 2 large sets of historical, ethnically matched healthy controls, using the relative predispositional effect method.Positive association was confirmed with the shared epitope positive HLA-DRB1 alleles associated with RA in Caucasians. (ox.ac.uk)
  • B*44:03 and DRB1*07:01, in both the populations studied, beside the differences in the frequencies of other alleles, suggesting that localized vitiligo too may be an autoimmune disorder. (nih.gov)
  • Frequencies of mtDNA haplogroups and SNPs in the subjects were analysed using polymerase chain reaction. (khazaria.com)
  • In a recent, somewhat larger, study based on molecular HLA typing in 65 glioma cases and 157 controls from Germany ( 41 ), the cases showed higher frequencies of A*25, B*18, B*27 and DRB1*15, and a lower frequency of DRB1*07 than controls ( 41 ). (aacrjournals.org)
  • Similarly, at the HLA-DRB1 locus, phenotype and SE frequencies were compared in patients with PsA (n = 480), early undifferentiated inflammatory arthritis alone (n = 1621) and healthy controls (n = 537).HLA-DRB1*04 alleles and the SE were associated with undifferentiated inflammatory arthritis but not with PsA.The SE is not a PsA susceptibility locus. (nih.gov)
  • In a case-control association study, HLA-Cw*06 phenotype frequencies were compared between patients with PsA (n = 480), psoriasis alone (n = 611) and healthy controls (n = 166). (nih.gov)
  • The HLA region harbors some of the most polymorphic loci in the human genome. (anthropogeny.org)
  • The HLA complex is found on the short arm of chromosome 6 and is the most polymorphic region in the human genome. (who.int)
  • The HLA region is the most polymorphic region in the human genome. (who.int)
  • W6/32 mAb recognizes a non-polymorphic epitope shared among products of the HLA-A, B, and C loci and immunoprecipitates both 43 kDa and 11-12 kDa chains. (thermofisher.com)
  • There are two major subhaplotypes one that is preceded on its telomeric side by HLA A*0301 and the other by HLA A*0201. (wikipedia.org)
  • Eric Zanelli, Miguel Gonzalez-Gay and Chella David propose that the HLA-DRB1 locus is associated with protection to RA and that the actual arthritogenic peptide-presenting molecule is HLA-DQ. (elsevier.com)
  • Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. (fishersci.com)
  • A significant underrepresentation of the HLA-DRB1*0103 variant was noted among the RA cases, supporting the proposed protective role of the DERAA motif at residues 70-74 of the DRbeta molecule. (ox.ac.uk)
  • The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. (wikipedia.org)
  • IL-7R is a heterodimer molecule which is consisted of α-chain or IL-7Rα and Υ-chain or IL-7RΥ. (symbiosisonlinepublishing.com)
  • Structural characterizations suggest that these long ligands interact with the MHC I molecule much like canonical peptides: The MHC I alpha chain forms a 10 x 25 angstrom groove in which peptide ligands are anchored by their second (P2) and C-terminal (PΩ) residues. (elifesciences.org)
  • 5. A method in accordance with claim 2, wherein the HLA-B oligonucleotide probes are present on said solid support at a surface density of from about 250 to about 450 angstrom 2 /molecule. (freepatentsonline.com)
  • These alleles share an amino acid sequence at the peptide-binding site in the third hypervariable region of the DRβ1 chain-the "shared epitope" (SE). (bmj.com)
  • HLA-DRB1 alleles encode (70Q(R)K(R)RAA74) encoding the shared epitope (SE) (RAA amino acid pattern in positions 72 to 74 of the third hypervariable region of the DRβ1 chain) are associated with RA susceptibility [ 4 ]. (biomedcentral.com)
  • Structural determination of eight HLA-DR4-self-epitope complexes revealed strict conformational convergence of the P4-Cit and surrounding HLA β-chain residues. (rcsb.org)
  • A new classification of HLA-DRB1 alleles, reshaping the shared epitope (SE) hypothesis, was recently found relevant in terms of RA susceptibility and structural severity. (paperity.org)
  • HLA class I and class II allelic genotypes were determined in 371 unrelated individuals and 309 members of 81 families inhabiting the central Japan area. (cdc.gov)
  • Compared with other populations, our results indicated that the Han populations in different regions had a similar allelic diversity of HLA -A, -B, and -DRB1 loci. (elsevier.com)
  • In summary, the similarities and differences of the HLA allelic diversity and haplotype structure between the Han population in the Guanzhong region and related populations, regarding HLA genotype distribution, provide basic information for further studies of the HLA heterogeneity and anthropological studies. (elsevier.com)
  • It is necessary and meaningful to study the high-resolution allelic and haplotypic distributions of HLA loci in different groups. (openrepository.com)
  • The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. (wikipedia.org)
  • Strategies for Unambiguous Detection of Allelic Heterozygosity via Direct DNA Sequencing of PCR Products: Application to the HLA DRB1 Locus", Mol. (patentgenius.com)
  • We have characterized the DRB1 genotypes in a sample of 64 South American Indians drawn from populations in Chile, Colombia, and Ecuador. (elsevier.com)
  • METHODS: We analysed data from 4238 RA cases and 1811 controls, for which genotypes were available at all five loci. (elsevier.com)
  • Some previous studies reported independence, whereas others suggested heterogeneity in the relative effects of the genotypes at these disease loci. (diabetesjournals.org)
  • However, there was a significant heterogeneity ( P = 2.4 × 10 −4 ) in the distribution of the INS genotypes in patients with different HLA genotypes. (diabetesjournals.org)
  • In this work, we tried to understand whether combined genotypes of CCR5-▵32, CCR2-64I, SDF1-3′A and HLA alleles can predict the LT-NP status. (bloodjournal.org)
  • In this report, we studied chemokine receptors (CCR2, CCR5), chemokine (SDF1), and HLA class I and II genotypes in LT-NP and attempted to find out whether any particular pattern of host genetics could be implicated in the LT-NP phenotype. (bloodjournal.org)
  • Thus, both the occurrence and the prognosis of glioblastoma multiforme could be associated with specific but different HLA genotypes. (aacrjournals.org)
  • Comparing allele and haplotype frequency distribution in the target population to that of other populations denoted HLA system intra- and inter-population diversity. (urosario.edu.co)
  • Individual studies have reported different results regarding the association of HLA alleles with RA in Chinese populations. (biomedcentral.com)
  • We examined the case-control studies concerned about the relationship between HLA-DRB1and RA and differences of clinical and laboratory parameters between the HLA-DR4 (DR4)+ and DR4- in RA patients in Chinese populations. (biomedcentral.com)
  • It was found that HLA-DRB1*04, *0401, *0404, *0405 and *0410 are risk factors for RA in Chinese populations. (biomedcentral.com)
  • Many studies have attempted to clarify the relationship between HLA-DRB1 and RA, but there has been no definite consensus to date in Chinese populations. (biomedcentral.com)
  • Well-designed meta-analyses of Caucasian and American populations showed that there was a strong association between HLA-DRB1 and RA susceptibility and severity [ 5 ]. (biomedcentral.com)
  • HLA-DRB1 *14:02-vimentin59-71-specific and HLA-DRB1 *14:02- vimentin (show VIM Antibodies )-64Cit59-71-specific CD4 (show CD4 Antibodies )+ memory T cells were phenotypically distinct populations. (antibodies-online.com)
  • A significant susceptibility effect was observed with HLA-DRB1*09, described in other ethnically diverse populations but not in Caucasians. (ox.ac.uk)
  • Here we examine the role of alleles of HLA class I and class II loci to delineate vitiligo manifestation in two distinct populations. (nih.gov)
  • however, information on HLA diversity among southern Africans, including South African populations, is limited. (who.int)
  • This review discusses the importance of HLA in the clinical setting in South Africans and highlights how tools such as HLA imputation might augment standard HLA typing methods to increase our understanding of HLA diversity in our populations, which will better inform disease association studies, donor recruitment strategies into bone marrow registries and our understanding of human genetic diversity in South Africa. (who.int)
  • Genetic associations between type 1 diabetes and alleles at the HLA class II locus DPB1 have been previously reported. (diabetesjournals.org)
  • These data demonstrate reproducibility of associations among ethnic groups and support a role for the DPB1 locus as a risk factor for type 1 diabetes. (diabetesjournals.org)
  • CBD has been associated with HLA-DPB1*02:01 , especially with a glutamic acid residue at position 69 (Glu69) [ 4 ]. (ersjournals.com)
  • The main objective of this study was to evaluate the HLA-DPB1 polymorphisms and the BTNL2 splice-site variant in Finnish patients suffering from sarcoidosis followed-up for 5-15 years and clinically categorised into subgroups based on disease prognosis. (ersjournals.com)
  • We could not confirm the association between sarcoidosis and the CBD-related marker HLA-DPB1*02:01 (or Glu69). (ersjournals.com)
  • More recent the most replicated is at the chromosome 17q21 locus. (merckmanuals.com)
  • HLA B7-DR15-DQ6 is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6. (wikipedia.org)
  • The HLA region on chromosome 6. (who.int)
  • Another established disease locus, IDDM2, has been mapped to chromosome 11p15.5 and carries a relatively more modest but clearly defined genetic effect ( 10 ). (diabetesjournals.org)
  • [1] The haplotype begins before the TRIM27 locus approximately 28.8 million nucleotides from the telomere of chromosome 6's shorter arm. (wikipedia.org)
  • However it can pair with, in any individual, the beta chain from 3 different DR beta loci, DRB1, and two of any DRB3, DRB4, or DRB5 alleles. (wikipedia.org)
  • Thus there is the potential that any given individual can form 4 different HLA-DR isoforms (2 alleles of DRB1 and two alleles from DRB3, DRB4 or DRB5). (wikipedia.org)
  • DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. (wikipedia.org)
  • DRB1 is expressed at a level five times higher than its paralogues DRB3 , DRB4 and DRB5. (wikipedia.org)
  • PLA2R-associated MN was initially found to associate with risk alleles within HLA-DQA1 , but subsequent studies have shifted the focus to the HLA-DRB locus. (asnjournals.org)
  • HLA-DQA1*0102, shows no primary MS association. (ox.ac.uk)
  • Methodology/Principal Findings: High-resolution HLA typing for the Uyghur ethnic minority group using polymerase chain reaction-sequence-based-typing method was first reported. (openrepository.com)
  • METHODS A polymerase chain reaction with sequence-specific primers (PCR-SSP) method was used to genotype HLA-DRB1 alleles in 196 syphilis patients and 500 healthy controls. (semanticscholar.org)
  • 05). Molecular relapse, defined by 2 consecutive positive polymerase chain reaction assays for bcr-abl within a 4-week interval, occurred in 12 of 45 evaluable patients (27%) after BMT and in 4 of 37 (11%) after PBSCT (not significant). (ashpublications.org)
  • In general, HLA DNA can be typed either by hybridizing labeled, sequence specific oligonucleotide probes to HLA loci amplified by the polymerase chain reaction (PCR), or by using PCR to amplify th e HLA DNA directly through differential primer extension. (bio-medicine.org)
  • Methods -Allele specific hybridisation and restriction enzyme digestion of polymerase chain reaction amplified genomic DNA. (bmj.com)
  • Automation of Polymerase Chain Reaction Tests to Achieve Acceptable Contamination Rates," Clin. (patentgenius.com)
  • The high resolution level typing of HLA-B and -C loci was performed using the Polymerase Chain Reaction - Sequence Specific Primers (PCR-SSP) method. (mebm.eu)
  • Polymerase Chain Reaction-Sequence Specific Primers, PCR-SSP). (unizg.hr)
  • Polymerase Chain Reaction-Sequence Specific Oligos, PCR-SSO). (unizg.hr)
  • Typing of HLA-DRB4 alleles was carried out by polymerase chain reaction sequence specific primers for one or more HLA alleles (method: PCR-SSP). (unizg.hr)
  • DNA sequences and corresponding amino acid sequences from the HLA class II beta region of the human genome that are associated with insulin-dependent diabetes mellitus (IDDM) and Pemphigus vulgaris (PV) have been identified. (google.com.au)
  • These associations are driven by the identity of amino-acids at positions 13 and 71 in HLA-DRB1 and 156 in HLA-B . (antibodies-online.com)
  • Significant differences in the amino-acid signatures of the peptide-binding pockets of HLA-A and HLA-B α-chain and HLA-DR β-chain were observed between vitiligo patients and unaffected controls. (nih.gov)
  • To investigate reactivities of anti-CCP to various citrullinated proteins/peptides, which represent potential autoantigens in RA, and to examine the relationship between such antibodies, and their association with genetic variants within HLA-DRB1 SE alleles. (bmj.com)
  • Although predominant associations with the HLA-DRB1 locus have been known for decades, recent data have revealed additional insight into the likely causative variants within HLA-DRB1 as well as within other HLA loci that contribute to disease risk. (antibodies-online.com)
  • 700) SNP examination of the MHC region in the benign and malignant patients could not identify variants differing significantly between the two groups, suggesting that HLA-DRB1 may itself be the disease-modifying locus. (ox.ac.uk)
  • CONCLUSION: Although some HLA alleles seem to primarily drive the extent of humoral immune responses in the CNS by increasing CSF B cells and plasmablasts, genetic variants at the immunoglobulin heavy chain constant locus might regulate intrathecal immunoglobulins levels via different mechanisms. (mdc-berlin.de)
  • The HLA-Cw*06 phenotype was associated with type I psoriasis (OR 6.9, 95% CI 4.4, 11.1, p = 2.2 x 10(-21)) and with patients with PsA having type I psoriasis (OR 5.0, 95% CI 3.2, 7.9, p = 4.39 x 10(-13)), but not with patients with PsA having type II psoriasis (age of onset >40 years). (nih.gov)
  • Comparison of HLA-Cw*06 phenotype in psoriatic arthritis (PsA) cases, psoriasis and controls. (nih.gov)
  • When compared with controls, the HLA-Cw*06 phenotype was shown to be strongly associated with PsA (odds ratio (OR) 3.6, 95% CI 2.3, 5.8 and p = 5.5×10−9) (table 2 and fig 1). (nih.gov)
  • Some have reported that the frequency of the HLA-DRB1*0401 and *0405 alleles are significantly increased in RA patients, whereas others have found no associations [ 6 , 7 ]. (biomedcentral.com)
  • The frequency of HLA-DRB1 alleles varies according to ethnic and racial background, with some alleles being extremely rare. (biomedcentral.com)
  • We confirm that genetic factors underlie these antibody levels and identify both the major histocompatibility complex and immunoglobulin heavy chain region as major determinants. (edu.au)
  • 1 A significant part of the genetic component maps to the HLA class II region of the major histocompatibility complex (MHC). (bmj.com)
  • Background -Susceptibility to coeliac disease is strongly associated with particular HLA class II alleles. (bmj.com)
  • The SE is not a PsA susceptibility locus. (nih.gov)
  • 6 The HLA-DRB1 SE alleles are associated particularly with anti-CCP-positive RA 7 and also influence the magnitude of the anti-CCP response. (bmj.com)
  • We assessed whether DRB1 alleles are associated with susceptibility to particular clinical features of adult onset Still's disease (AOSD) in a Japanese population by determining the DRB1 allele distributions. (biomedcentral.com)
  • Aim of this work was to analyze the HLA allele profile in a survey of 76 unselected Italian MG patients and in a subgroup characterized by disease onset after the age of 50 years, absence of thymoma, and presence of antiacetylcholine receptor antibodies. (hindawi.com)
  • We analyzed the HLA allele profile in a series of Italian MG patients and in a particular subgroup, characterized by the absence of thymoma, the presence of antiacetylcholine receptor antibodies (AChR-Ab) and onset of the disease after the age of 50. (hindawi.com)
  • Anti-CCP and anti-citrullinated protein antibodies were associated with HLA-DRB1*04 rather than with HLA-DRB1*01 alleles. (bmj.com)
  • On www.antibodies-online.com are 228 HLA Class II DR beta 1 (HLA-DRB1) Antibodies from 17 different suppliers available. (antibodies-online.com)
  • Living at a higher latitude and carrying the DRB1 (show RBM45 Antibodies )*04:05 allele independently lessens severity in patient with multiple sclerosis in japan. (antibodies-online.com)
  • In addition to the HLA high resolution typing patients are screened for preformed anti-HLA antibodies, the detection of anti-HLA antibodies directed to possible mismatches in less ideal donors is related with delay in the platelets and neutrophil engraftment and even with graft rejection. (umich.edu)
  • 7. A marker DNA sequence from the HLA DQ-beta allele associated with susceptibility to insulin-dependent diabetes mellitus, wherein said sequence can be used to detect either directly or indirectly the identity of the codon at position 57 of the DQ-beta protein sequence. (google.com.au)
  • CONCLUSIONS The allele HLA-DRB1*14 was found to be associated with susceptibility to syphilis in the Chinese population. (semanticscholar.org)
  • The INS predisposing genotype was less frequent (74.9%) in high-risk HLA genotype-positive patients than in those with HLA intermediate-risk (86.1%) and low-risk (84.8%) categories. (diabetesjournals.org)
  • An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus. (ox.ac.uk)
  • Results of PCR -SSP low-resolution HLA show that no predisposing allele plays a role , we observed that HLA-DRB1 *04 allele has a protective role OR=0.49 (p=0.03). (bvsalud.org)
  • A protective association between the DRB1*09:01 allele and AOSD was also observed in these patients. (biomedcentral.com)
  • The new classification of HLA-DRB1 SE+ alleles distinguishes predisposing and protective alleles for RF, anti-CCP2 or AhFibA production. (paperity.org)
  • The new classification of HLA-DRB1 SE+ alleles is relevant in terms of autoantibody production in early RA patients by differentiating predisposing and protective alleles for RF or ACPA production. (paperity.org)
  • Here, we used a fluorescence polarization assay to determine a hierarchy of binding affinities of 34 self-peptides implicated in RA against three HLA-DRB1 allomorphs (HLA-DRB1*04:01/*04:04/*04:05) each possessing the SE motif. (rcsb.org)
  • HLA-DR is a heterodimeric transmembrane protein composed of alpha and beta subunits and plays an important role in the presentation of peptides to CD4+ T lymphocytes. (fishersci.com)
  • The hypothesis of overdominant selection (heterozygote advantage) at the MHC proposes that individuals heterozygous at HLA loci are able to present a greater variety of antigenic peptides than are homozygotes, resulting in a more productive immune response to a diverse array of pathogens ( 6 ). (sciencemag.org)
  • This region encodes cell surface in the HLA database, while HLA-A has endogenously derived peptides, which in proteins that form part of the innate and 4 846 and HLA-C 4 654 alleles. (who.int)
  • Structural analysis demonstrates that binding of extended peptides opens the HLA class I F' pocket, allowing the C-terminal extension to protrude through one end of the binding groove. (elifesciences.org)
  • One of the most commonly employed strategies in HLA DNA typing is to first amplify a given HLA locus, then hybridize it with a labeled, sequence specific oligonucleotide probe. (bio-medicine.org)
  • for example, it is possible to construct PCR primers pre labeled with biotin, and then amplify biotin labeled HLA loci. (bio-medicine.org)
  • By constructing an array of PCR primers complementary to the range of HLA polymorphisms, it is possible to detect the HLA alleles directly by PCR. (bio-medicine.org)
  • It is interesting that MBP-reactive T cells from MS patients expressing the disease-associated HLADRB1*15 allele produced increased quantities of TNFa, a cytokine suggested to play an important role in inflammation and demyelination. (docme.ru)
  • According to the calculations, the likelihood of finding an available 8/8 HLA matched donor is 75% for white patients of European descent but only 46% for White patients of Middle Eastern or North African descent [19]. (ukessays.com)
  • DRB1 genotyping of 96 patients with AOSD and 1,026 healthy controls was performed. (biomedcentral.com)
  • To determine whether or not genetic variations of DRB1 alleles also influence AOSD risk, we investigated the DRB1 alleles in Japanese patients with AOSD. (biomedcentral.com)
  • Our studies have identified three specific alleles, HLA-A*33:01, HLA-B*44:03, and HLA-DRB1*07:01, to be significantly increased in vitiligo patients as compared with controls in both the initial study on North Indians (N=1,404) and the replication study in Gujarat (N=355) cases, establishing their positive association with vitiligo. (nih.gov)
  • Genotyping sets of benign and malignant MS patients showed that HLA-DRB1*01 was significantly underrepresented in malignant compared with benign cases. (ox.ac.uk)
  • The observation was doubly replicated in (i) Sardinian benign and malignant patients and (ii) a cohort of affected sibling pairs discordant for HLA-DRB1*01. (ox.ac.uk)
  • Maximum HLA heterozygosity of class I loci ( A , B , and C ) delayed acquired immunodeficiency syndrome (AIDS) onset among patients infected with human immunodeficiency virus-type 1 (HIV-1), whereas individuals who were homozygous for one or more loci progressed rapidly to AIDS and death. (sciencemag.org)
  • The extended survival of 28 to 40 percent of HIV-1-infected Caucasian patients who avoided AIDS for ten or more years can be attributed to their being fully heterozygous at HLA class I loci, to their lacking the AIDS-associated alleles B*35 and Cw*04 , or to both. (sciencemag.org)
  • Using a high-throughput sequencing platform, we sought to analyze the TCR γ-chain (TRG) repertoire of γδ T cells within donor stem cell grafts and address its potential impact on clinical response in the corresponding patients. (jimmunol.org)
  • Furthermore, the T/G genotype was associated with early onset in DRB1*10 positive patients and with non-relapsingremitting disease in DRB1*15 positive and DRB5*01 positive patients. (ac.ir)
  • Several studies have already explored associations between HLA polymorphisms and risk of malignant glioma and related diseases in small cohorts of patients and controls ( 39 - 41 ). (aacrjournals.org)
  • HLA and microsatellite typing was first done in two cohorts ( n = 42-58) of Japanese and Italian patients ( 39 , 40 ). (aacrjournals.org)
  • The laboratory performs routine HLA-B*57:01 screening in Czech HIV positive patients prior to drug administration to prevent hyper-sensitive reaction. (uhkt.cz)
  • RESULTS For GD, the strongest association was with DRB1*03 [56% patients positive vs. 24% controls, P = 2 × 10−10, odds ratio (OR) 4·0]. (edu.au)
  • The potential application of these data can be found in pre-transplant management of HLA-B*44-positive patients in both hematopoietic stem cell and solid organ transplantation program. (mebm.eu)
  • HLA-Cw*06 and HLA-DRB1*07 are associated with patients with PsA having type I psoriasis, suggesting that the primary association is with age of onset of psoriasis. (nih.gov)
  • However, the association with HLA-Cw*06 was confined to the subgroup of patients with PsA with type I psoriasis (OR 5.0, 95% CI 3.2, 7.9, p = 4.39×10−13) and was not observed in patients with PsA with type II psoriasis (OR 1.1, 95% CI 0.6, 2.1, p = 0.76). (nih.gov)
  • Additionally we are shipping HLA-DRB1 Proteins (26) and HLA-DRB1 Kits (8) and many more products for this protein. (antibodies-online.com)
  • The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria. (medlineplus.gov)
  • An association of several HLA alleles with myasthenia gravis (MG) has been reported. (hindawi.com)
  • No clear association with specific HLA alleles has been reported so far in LOMG. (hindawi.com)
  • We studied association of 24 AD risk loci with intracranial volume, total brain volume, hippocampal volume (HV), white matter hyperintensity burden, and brain infarcts in a meta-analysis of genetic association studies from large population-based samples (N= 8175-11,550). (elsevier.com)
  • HLA B7-DR15-DQ6 was found to have an association with postmenopausal osteoporosis in a Greek population. (wikipedia.org)
  • A genome-wide association study of sJIA identified a strong association between sJIA and HLA-DRB1*11 [ 10 ]. (biomedcentral.com)
  • This study was performed to systematically summarize the association between Chinese with RA and HLA-DRB1 alleles. (biomedcentral.com)
  • Conclusions/Significance: The present findings could be useful to elucidate the genetic background of the population and to provide valuable data for HLA matching in clinical bone marrow transplantation, HLA-linked disease-association studies, population genetics, human identification and paternity tests in forensic sciences. (openrepository.com)
  • Association of the HLA-DRB1 locus with syphilis in a Chinese population. (semanticscholar.org)
  • Furthermore, serology methods have mostly been used in previous studies investigating the association between STIs and HLA alleles. (semanticscholar.org)
  • The objective of this study was to analyze the association of the HLA-DRB1 alleles and susceptibility to syphilis in the Chinese population. (semanticscholar.org)
  • One measure of whether the association of an allele with a disease reflects a true effect of the locus or is simply due to LD is the observation of that association in multiple ethnic groups. (diabetesjournals.org)
  • Association studies have demonstrated that multiple loci within the HLA region appear to contribute to disease risk ( 1 , 6 - 8 ). (diabetesjournals.org)
  • In the association study the rare DRB1*103 (8.3% vs 3.2% in controls) and DRB1*12 (8.6% vs 2.1% in controls) alleles were associated with ulcerative colitis (p = 0.0074, chi2 = 7.22, odds ratio OR = 2.9 [95% CI 1.3-6.4] and p = 0.0056, chi2 = 12.63, OR = 4.33 [1.8-11.0] respectively). (qxmd.com)
  • The previously reported association of the immunoglobulin heavy chain locus with immunoglobulin G index reaches strong evidence for association in this data set (P = 3.79 × 10−37). (edu.au)
  • The previously reported association of the immunoglobulin heavy chain locus with immunoglobulin G index reaches strong evidence for association in this data set (P = 3.79 x 10 -37 ). (edu.au)
  • 2013) Genome Wide Analysis of Narcolepsy in China Implicates Novel Immune Loci and Reveals Changes in Association Prior to Versus After the 2009 H1N1 Influenza Pandemic. (stanford.edu)