title: An HLA-D region restriction fragment length polymorphism associated with celiac disease.
abstract: This study is the first to describe a molecular marker that distinguishes the celiac disease HLA-D region haplotype from a serologically identical haplotype in unaffected controls. Using a DQ beta chain cDNA probe and the restriction endonuclease Rsa I, we have detected a polymorphic 4.0 kb fragment which, in DQw2 individuals, is associated with a 40-fold increased relative risk of developing celiac disease. This finding should permit the identification of the celiac disease susceptibility gene(s) in the HLA-D region and facilitate a more precise dissection of the molecular and immunogenetic mechanisms involved in the pathogenesis of that disease.
mesh_terms: D002446:Celiac Disease / Q000235:genetics* / Q000276:immunology; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D006683:HLA-DQ Antigens; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic
chemical_list: D006683:HLA-DQ Antigens; D000949:Histocompatibility Antigens Class II; D004247:DNA; D004262:DNA Restriction Enzymes