title: Sequencing-based typing identifies novel alleles due to single nucleotide polymorphisms in 'conserved' regions.
abstract: The Royal Perth Hospital laboratory has been using sequencing-based typing for all HLA loci since 2002. In the period to October 2005, approximately 12,000 HLA A and HLA B, 5000 HLA C and DQB1, and 17,000 DRB1 requests have been processed. Twenty nine novel alleles have been identified in that time. These comprise 10 HLA-A (including one null allele), five HLA-B, six HLA-C, six DRB1 (including a null allele), and one DQB1 novel allele. (At the time of identifying the DRB1 null allele, there were no other reported examples.) In addition, we have seen one example of a blast-specific HLA-A null allele. One HLA-A allele (HLA-A*0264) and one HLA-B allele (HLA-B*400104) were subsequently identified in other laboratories and submitted to the international ImMunoGeneTics project (IMGT) database.
authors: Department of Clinical Immunology and Biochemical Genetics, Pathwest at Royal Perth Hospital, Perth, WA, Australia.
authors: L K
authors: LK
authors: Smith
authors: D C
authors: DC
authors: Sayer
authors: R S
authors: RS
authors: Whidborne
authors: F T
authors: FT
authors: Christiansen
mesh_terms: D000483:Alleles; D017124:Conserved Sequence; D006680:HLA Antigens / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics / Q000276:immunology; D006801:Humans; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D006680:HLA Antigens