Non-expression of HLA-B*5111N is caused by an insertion into the cytosine island at exon 4 creating a frameshift stop codon

Tissue Antigens. 2001 Apr;57(4):369-72. doi: 10.1034/j.1399-0039.2001.057004369.x.

Abstract

The identification of the "blank" allele HLA-B*5111N, which was detected in German and Czech individuals, is described. In the pedigree analysis this new allele segregates with the serological haplotype HLA-A2; B-; DR4 which is frequent in Czech population. The non-expression of B*5111N is caused by the insertion of an additional cytosine molecule at the cytosine island between the nucleotides 621-626 (codons 183-185, first three codons of exon 4) leading to a frame shift that creates a stop codon at codon 196. This insertion may be explained either by conversion with the pseudogene HLA-J or by slipped-strand mispairing. In order not to overlook the presence of alleles with altered expression in case of hematopoietic stem cell transplantation, both serological and DNA-based typing should be performed (Note).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Codon, Terminator / genetics*
  • Codon, Terminator / immunology
  • Cytosine*
  • Frameshift Mutation* / immunology
  • Gene Silencing* / immunology
  • HLA-B Antigens / biosynthesis*
  • HLA-B Antigens / genetics*
  • HLA-B51 Antigen
  • Haplotypes
  • Humans
  • Molecular Sequence Data
  • Mutagenesis, Insertional* / immunology
  • Polymerase Chain Reaction

Substances

  • Codon, Terminator
  • HLA-B Antigens
  • HLA-B51 Antigen
  • Cytosine

Associated data

  • GENBANK/AJ005590
  • GENBANK/Y13566