title: An HLB-B null allele (B*0808N) caused by a nucleotide deletion in exon 3, found in the family of a bone marrow transplant recipient.
abstract: We have identified a variant HLA-B allele, B*0808N, segregating through two generations of healthy individuals, whilst HLA typing the family of a bone marrow patient. Serological typing identified a disparity between the father (A1, A3 B7 DR7) and the brother (A1, A2 B56 DR1, DR7) of the patient. Low/medium resolution polymerase chain reaction using sequence-specific primers (PCR-SSP) revealed a B*08 allele undetectable by serological methods. High resolution DNA typing by polymerase chain reaction-sequencing based typing (PCR-SBT), revealed a nucleotide deletion at position 131 (C) in exon 3, the only difference between the new allele and B*0801. The deletion results in a frame shift in the protein coding sequence, introducing a premature termination codon (TGA) in exon 4. Although a B*08 allele is present in these individuals, the deletion prevents correct expression of the antigen on the cell surface.
authors.affiliation: National Blood Service, Newcastle, Newcastle upon Tyne, UK.
authors.forename: V
authors.initials: V
authors.lastname: Carter
authors.forename: P P
authors.initials: PP
authors.lastname: Dunn
authors.forename: G
authors.initials: G
authors.lastname: Cavanagh
authors.forename: S
authors.initials: S
authors.lastname: Day
authors.forename: J
authors.initials: J
authors.lastname: Ross
authors.forename: C
authors.initials: C
authors.lastname: Chapman
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D016026:Bone Marrow Transplantation; D018388:Codon, Terminator / Q000235:genetics; D017931:DNA Primers / Q000737:chemistry; D005091:Exons / Q000235:genetics*; D016368:Frameshift Mutation; D015795:HLA-B8 Antigen / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D018388:Codon, Terminator; D017931:DNA Primers; D015795:HLA-B8 Antigen