Sequence-based typing confirmed a novel B*40 allele, B*4046, which was identified through sequence-specific oligonucleotide hybridization routine typing

Tissue Antigens. 2004 Apr;63(4):378-81. doi: 10.1111/j.0001-2815.2004.00156.x.

Abstract

In this paper, we report the identification of a new human leucocyte antigen-B (HLA-B) allele in a sample which has participated in a search for unrelated bone marrow donors which was initiated by the Aktion Knochenmarkspende Bayern. This novel allele officially designed B*4046 was detected by different low-resolution sequence-specific oligonucleotide typings not matching to known allele combinations in a female Caucasoid individual. Confirming the presence of a novel allele by sequence-based typing, the closest-related allele B*400103 differs from the new B*4046 allele by three mutations. This results in an amino acid substitution from threonine to alanine in B*4046 at codon 65, while codon 68 remains conserved and codon 69 "AAG" lysine is replaced by "GAG" glutamic acid in B*4046.

MeSH terms

  • Alleles*
  • Amino Acid Substitution / genetics*
  • Base Sequence
  • Codon / genetics*
  • DNA Fingerprinting*
  • Female
  • HLA-B Antigens / genetics*
  • HLA-B40 Antigen
  • Humans
  • Molecular Sequence Data
  • Nucleic Acid Hybridization
  • Oligonucleotide Probes
  • White People

Substances

  • Codon
  • HLA-B Antigens
  • HLA-B*40:46 antigen
  • HLA-B40 Antigen
  • Oligonucleotide Probes