title: Comparison of the structure of HLA-Bw47 to HLA-B13 and its relationship to 21-hydroxylase deficiency.
abstract: Adrenal 21-hydroxylase deficiency is strongly associated with HLA-Bw47. This rare HLA allele and the HLA-B13 allele are both found in positive genetic linkage disequilibrium with HLA-A3, -Cw6, -DR7 and also display serological cross-reactivity. To investigate the relationship between these two alleles at the structural level, the nucleotide sequences of the HLA-B13 and HLA-Bw47 genes have been determined. They differ by 28 nucleotides, resulting in 14 amino acid substitutions: 5 in the alpha 1 domain, 8 in the alpha 2 domain, and 1 in the transmembrane region. Comparison of HLA-Bw47 nucleotide sequence with other HLA-B sequences shows a segment of 228 bp identical with B44 in the alpha 1 domain and a segment of 218 bp identical with B27 in the alpha 2 domain, but only a 91 bp segment of identity with B13 in the alpha 1 domain. The complex pattern of substitutions and their degree of divergence indicate that HLA-B13 and HLA-Bw47 alleles are not related by a simple mutational event.
authors.affiliation: Human Immunogenetics Laboratory, Sloan Kettering Institute for Cancer Research, New York, NY 10021.
authors.forename: J
authors.initials: J
authors.lastname: Zemmour
authors.forename: P D
authors.initials: PD
authors.lastname: Ennis
authors.forename: P
authors.initials: P
authors.lastname: Parham
authors.forename: B
authors.initials: B
authors.lastname: Dupont
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003429:Cross Reactions; D006680:HLA Antigens / Q000235:genetics* / Q000276:immunology; D015235:HLA-B Antigens; D059908:HLA-B13 Antigen; D006801:Humans; D007526:Isoelectric Point; D008969:Molecular Sequence Data; D012689:Sequence Homology, Nucleic Acid; D013250:Steroid Hydroxylases / Q000172:deficiency*
chemical_list: D006680:HLA Antigens; D015235:HLA-B Antigens; D059908:HLA-B13 Antigen; C106993:HLA-B47 antigen; D013250:Steroid Hydroxylases