title: Confirmation of the detection of HLA-A*0104N in a family: a PCR-SSP reaction for the allelic detection of HLA-A*0104N.
abstract: The allele A*0104N has been detected in a family with a patient requiring a bone marrow transplant. The allele was found as a consequence of a discrepant result when family members were typed using serology and polymerase chain reaction using sequence-specific primers (PCR-SSP). Serological typing gave an apparent HLA-A 'blank' while PCR-SSP revealed the presence of an A*01 allele in three family members who were serologically negative for A1. Sequencing-based typing (SBT) was then used to establish that the allele was A*0104N. A PCR-SSP reaction was subsequently designed and used for the allelic detection of A*0104N. The study highlights the potential risks involved if molecular technology is used for typing, unless all non-expressed alleles are specifically detected.
authors.affiliation: Tissue Typing Services, Australian Red Cross Blood Service, Sydney, NSW 2000, Australia.
authors.forename: J H
authors.initials: JH
authors.lastname: Moses
authors.forename: J
authors.initials: J
authors.lastname: Downes
authors.forename: W
authors.initials: W
authors.lastname: McClenahan
authors.forename: N
authors.initials: N
authors.lastname: Clow
authors.forename: C
authors.initials: C
authors.lastname: Kennedy
authors.forename: W D
authors.initials: WD
authors.lastname: Greville
authors.forename: H
authors.initials: H
authors.lastname: Dunckley
mesh_terms: D000483:Alleles; D016026:Bone Marrow Transplantation / Q000276:immunology; D017931:DNA Primers; D005260:Female; D005805:Genes, MHC Class I; D015788:HLA-A1 Antigen / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D015788:HLA-A1 Antigen