The identification and characterisation of a novel null HLA-DRB1 allele

Tissue Antigens. 2007 Apr:69 Suppl 1:58-60. doi: 10.1111/j.1399-0039.2006.760_3.x.

Abstract

Since the introduction of DNA-based human leukocyte antigen (HLA) typing a number of discrepancies with serological typing have been documented. At the time of submission of this abstract (July 2005 ImMunoGeneTics project (IMGT) project database release) 42 HLA class I and II null alleles had been described characterised by a lack of expression of cell surface antigen. These null alleles can be accounted for by a number of demonstrated molecular mechanisms including insertion, deletion and point mutation and may lead to a nonsense codon, splicing defect or premature stop codon.

MeSH terms

  • Alleles*
  • Base Sequence
  • Celiac Disease / genetics*
  • Celiac Disease / immunology
  • HLA-DR Antigens / genetics*
  • HLA-DRB1 Chains
  • Humans
  • Molecular Sequence Data
  • Sequence Homology, Nucleic Acid

Substances

  • HLA-DR Antigens
  • HLA-DRB1 Chains