High frequency of HLA-DQB1*0301 allele in patients with pure ocular cicatricial pemphigoid. 1994

L S Chan, and T Wang, and X S Wang, and C Hammerberg, and K D Cooper
Department of Dermatology, University of Michigan School of Medicine, Ann Arbor.

Two factors, is classification and its immunogenetics, may have contributed to an incomplete understanding of the pathogenic mechanism in the disease group commonly termed 'cicatricial pemphigoid'. We have previously demonstrated that pure ocular cicatricial pemphigoid (OCP) is a unique clinical and immunopathological entity. In an effort to better define the immunogenetic characteristics for patients with pure OCP, we performed HLA typing for the class II MHC gene HLA-DQB1*0301 allele, by amplifying genomic DNA extracted from patients with polymerase chain reaction, followed by hybridization with a sequence-specific oligonucleotide probe on dot-blotted and Southern-blotted amplified DNA samples. Ninety percent (9/10) of patients with pure OCP had the DQB1*0301 allele, in contrast to 52% (17/33) of normal individuals who had the DQB1*0301 allele. The high frequency of the HLA-DQB1*0301 allele in patients with pure OCP may point to a distinct immunogenetic pattern and possibly a distinct pathomechanism for the disease.

UI MeSH Term Description Entries
D010390 Pemphigoid, Benign Mucous Membrane A chronic blistering disease with predilection for mucous membranes and less frequently the skin, and with a tendency to scarring. It is sometimes called ocular pemphigoid because of conjunctival mucous membrane involvement. Pemphigoid, Cicatricial,Benign Mucosal Pemphigoid,Benign Mucous Membrane Pemphigoid,Cicatricial Pemphigoid, Ocular,Mucous Membrane Pemphigoid, Benign,Ocular Cicatricial Pemphigoid,Pemphigoid, Ocular Cicatricial,Benign Mucosal Pemphigoids,Cicatricial Pemphigoid,Cicatricial Pemphigoids, Ocular,Mucosal Pemphigoid, Benign,Mucosal Pemphigoids, Benign,Ocular Cicatricial Pemphigoids,Pemphigoid, Benign Mucosal,Pemphigoids, Benign Mucosal,Pemphigoids, Ocular Cicatricial
D005128 Eye Diseases Diseases affecting the eye. Eye Disorders,Eye Disease,Eye Disorder
D006683 HLA-DQ Antigens 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. HLA-DC Antigens,HLA-MB Antigens,HLA-DC,HLA-DQ,HLA-DS,HLA-DS Antigens,HLA-LB,HLA-LB Antigens,HLA-MB,Antigens, HLA-DC,Antigens, HLA-DQ,Antigens, HLA-DS,Antigens, HLA-LB,Antigens, HLA-MB,HLA DC Antigens,HLA DQ Antigens,HLA DS Antigens,HLA LB Antigens,HLA MB Antigens
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D001327 Autoimmune Diseases Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides. Autoimmune Disease,Disease, Autoimmune,Diseases, Autoimmune
D015151 Immunoblotting Immunologic method used for detecting or quantifying immunoreactive substances. The substance is identified by first immobilizing it by blotting onto a membrane and then tagging it with labeled antibodies. Dot Immunoblotting,Electroimmunoblotting,Immunoelectroblotting,Reverse Immunoblotting,Immunoblotting, Dot,Immunoblotting, Reverse,Dot Immunoblottings,Electroimmunoblottings,Immunoblottings,Immunoblottings, Dot,Immunoblottings, Reverse,Immunoelectroblottings,Reverse Immunoblottings
D059866 HLA-DQ beta-Chains Transmembrane proteins that form the beta subunits of the HLA-DQ antigens. HLA Class II Histocompatibility Antigen, DQ beta Chains,HLA DQ beta Chains,beta-Chains, HLA-DQ

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