The identification and characterisation of a novel null HLA-DRB1 allele.
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.
Fidler
S J
SJ
Department of Clinical Immunology and Biochemical Genetics, Pathwest Royal Perth Hospital, Perth, WA, Australia.
Smith
L K
LK
Christiansen
F T
FT
D000483:Alleles; D001483:Base Sequence; D002446:Celiac Disease / Q000235:genetics* / Q000276:immunology; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D008969:Molecular Sequence Data; D012689:Sequence Homology, Nucleic Acid
D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains