Sequencing of the Second Exon of the MHC Class II DQ6 Alleles in Patients with Type 1 Diabetes

The MHC class II molecule DQ6 is strongly associated with protection from type 1 diabetes. A small number of diabetic subjects have been typed as positive for DQ6, but it has been suggested that these individuals may possess a mutant form of the molecule, which is structurally altered in such a way as to abrogate its protective effect. In order to test this hypothesis, eight diabetic individuals positive for DQ6 were investigated. The second exons of the alleles encoding DQ6, DQA1*0102 and DQB1*0602, were sequenced using fluorescently labelled dideoxynucleotides. No mutations were found. This suggests that all the subjects possessed the "wild-type" second exons of the DQ6 alleles and, hence, that the protective effect associated with the antigen-binding domain of DQ6 is not absolute.