Celiac Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Celiac Disease, including details on symptoms, diagnosis, causes, diet.

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

Fidler SJ, Smith LK, Christiansen FT

Department of Clinical Immunology and Biochemical Genetics, Pathwest Royal Perth Hospital, Perth, WA, Australia.

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.

Published 20 April 2007 in Tissue Antigens, 69: 58-60.
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