A single amino acid exchange shifts the serological reactivity of the novel HLA-B*4442 allele product from HLA-B44 to HLA-B21

Int J Immunogenet. 2006 Jun;33(3):197-200. doi: 10.1111/j.1744-313X.2006.00596.x.

Abstract

A novel HLA-B (human leukocyte antigen-B) allele, HLA-B*4442, was identified both in a Czech patient with leukaemia and in his mother. The presence of a novel allele was initially suspected because conflicting results were obtained by serological and DNA typing techniques. The HLA typing using the polymerase chain reaction-sequence-specific primers (PCR-SSP) at the two-digit level indicated an allele belonging to the HLA-B*44 group, whereas serological typing indicated HLA-B21. Typing with PCR-sequence-specific oligonucleotides (PCR-SSO) resulted in a unique reaction pattern that could not be assigned to a known allele, PCR-SSP typing at the four-digit level did not match any known B*44 allele, either. The sequencing-based typing of the HLA-B locus then revealed the novel B*4442 allele that is identical with B*4405 except a single C-->G nucleotide exchange at position 572. This exchange results in an amino acid substitution from serine to tryptophan at position 167 of the expressed HLA-B protein. The B21 serological reactivity of the novel B*4442 allele product was confirmed by employing an additional serological panel of typing sera. Our findings support previous reports claiming that serine at the position 167 in the alpha-2 domain of the HLA-B protein is a major determinant of the HLA-B44(12) serological epitope.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Amino Acid Substitution* / immunology
  • Base Sequence
  • Czech Republic
  • Female
  • Gene Expression Regulation, Leukemic / genetics
  • Gene Expression Regulation, Leukemic / immunology
  • HLA-B Antigens / genetics*
  • HLA-B Antigens / immunology
  • HLA-B44 Antigen
  • Humans
  • Leukemia / genetics
  • Leukemia / immunology
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation* / immunology

Substances

  • HLA-B Antigens
  • HLA-B*44:42 antigen
  • HLA-B21 antigen
  • HLA-B44 Antigen

Associated data

  • GENBANK/AJ937958