The recombinant HLA-B*5518 allele supports the evidence of conserved haplotype association of rare alleles

Tissue Antigens. 2005 Aug;66(2):156-9. doi: 10.1111/j.1399-0039.2005.00442.x.

Abstract

Allelic polymorphism of the major histocompatibility complex arises mostly from gene recombination. Intralocus gene recombination usually involves short fragments of DNA leading most commonly to single-nucleotide substitutions and rarely involves large fragments. Here, we report a new recombinant human leukocyte antigen (HLA)-B*5518 allele that has arisen via recombination of a large fragment of DNA spanning more than 70 nucleotides. During routine HLA typing of potential volunteer donors for the National Marrow Donor Program((R)), a new HLA-B allele was identified in two donors from Guam. The allele, B*5518, appears to be a product of recombination between B*5502 and B*40. Exons 1, 3, and 4 of the new allele belong to B*5502, whereas part of exon 2 belongs to one of B*40 alleles. Introns 1 and 2 appear to belong to B*55, suggesting that the recombination event may have occurred within the homologous parts of exon 2.

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Genotype
  • Guam
  • HLA-B Antigens / genetics*
  • HLA-B Antigens / immunology
  • Haplotypes*
  • Humans
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide
  • Recombination, Genetic*
  • Sequence Homology, Nucleic Acid
  • Tissue Donors

Substances

  • HLA-B Antigens