Sequencing-based typing identifies novel alleles due to single nucleotide polymorphisms in ‘conserved’ regions

Authors


F.T. Christiansen
Department of Clinical Immunology
Pathwest
Royal Perth Hospital
GPO Box X2213
Perth 6001
WA Australia
Tel: 61 8 9224 2683
Fax: 61 8 9224 2920
e-mail: ftchrist@cyllene.uwa.edu.au

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.

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