Organization, sequence and expression of the HLA-B27 gene: a molecular approach to analyze HLA and disease associations.
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Weiss EH, Kuon W, Dorner C, Lang M, Riethmuller G
Organization, sequence and expression of the HLA-B27 gene: a molecular approach to analyze HLA and disease associations.
Immunobiology. 1985 Dec;170(5):367-80.
- PubMed ID
- 3912316 [ View in PubMed]
- Abstract
Among the numerous autoimmune diseases associated with various HLA alleles, the one with the highest relative risk so far reported has been ankylosing spondylitis with HLA-B27. To examine this relationship more directly, we have cloned the gene encoding the HLA-B27 antigen and determined its complete DNA sequence. Comparison of the HLA-B27 sequence with that of the allelic HLA-B27 shows a high level of homology. Mutations are distributed evenly between exons and introns. Exon 1 and intron 1 are the most divergent ones, and the degree of divergence distinctly declines towards the 3' end. The HLA-B57 gene when transfected into murine L cells is expressed on the cell surface and reacts with a panel of monoclonal antibodies directed against monomorphic and polymorphic determinants associated with HLA-B27 antigen. The isolation of this gene allows for the first time a search for structural features which make the HLA-B27 antigen a high risk genetic factor for a group of rheumatoid disorders, in particular ankylosing spondylitis.