A discrepancy between serological and molecular typing results led to identification of a novel HLA-B*57 allele: HLA-B*5728N

Int J Immunogenet. 2010 Aug;37(4):299-300. doi: 10.1111/j.1744-313X.2010.00922.x. Epub 2010 May 27.

Abstract

Summary Here, we describe the characterisation of a new allelic variant of HLA-B*57. The novel allele, HLA-B*5728N, was identified with sequence-based typing in a Caucasoid family. HLA-B*5728N, differs from HLA-B*5701 because of a nucleotide substitution at position 420 (C->G) resulting in a coding change from Tyrosine to a stop codon.

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Base Sequence
  • Codon, Terminator
  • Exons / genetics
  • Female
  • Genes, MHC Class I*
  • HLA-B Antigens / genetics*
  • Haplotypes / genetics
  • Histocompatibility Testing / methods*
  • Humans
  • Immunoblotting
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Nucleic Acid
  • Serologic Tests
  • White People / genetics

Substances

  • Codon, Terminator
  • HLA-B Antigens
  • HLA-B57 antigen