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

Tissue Antigens. 2000 Jan;55(1):61-4. doi: 10.1034/j.1399-0039.2000.550111.x.

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.

MeSH terms

  • Alleles*
  • Amino Acid Sequence
  • Base Sequence
  • Bone Marrow Transplantation*
  • Codon, Terminator / genetics
  • DNA Primers / chemistry
  • Exons / genetics*
  • Frameshift Mutation*
  • HLA-B8 Antigen / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Sequence Deletion*

Substances

  • Codon, Terminator
  • DNA Primers
  • HLA-B8 Antigen

Associated data

  • GENBANK/Y18522