title: Allelic sequence variation of the HLA-DQ loci: relationship to serology and to insulin-dependent diabetes susceptibility.
abstract: Analysis of sequence variation in the polymorphic second exon of the major histocompatibility complex genes HLA-DQ alpha and -DQ beta has revealed 8 allelic variants at the alpha locus and 13 variants at the beta locus. Correlation of sequence variation with serologic typing suggests that the DQw2, DQw3, and DQ(blank) types are determined by the DQ beta subunit, while the DQw1 specificity is determined by DQ alpha. The nature of the amino acid at position 57 in the DQ beta subunit is correlated with susceptibility to insulin-dependent diabetes mellitus. This region of the DQ beta chain contains shared peptides with Epstein-Barr virus and rubella virus.
authors.affiliation: Department of Human Genetics, Cetus Corp., Emeryville, CA 94608.
authors.forename: G T
authors.initials: GT
authors.lastname: Horn
authors.forename: T L
authors.initials: TL
authors.lastname: Bugawan
authors.forename: C M
authors.initials: CM
authors.lastname: Long
authors.forename: H A
authors.initials: HA
authors.lastname: Erlich
mesh_terms: D000483:Alleles; D001327:Autoimmune Diseases / Q000235:genetics; D001483:Base Sequence; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D004198:Disease Susceptibility; D006681:HLA-D Antigens / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000235:genetics*; D004854:Herpesvirus 4, Human / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012412:Rubella virus / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid
chemical_list: D006681:HLA-D Antigens; D006683:HLA-DQ Antigens