Resolution of cis-trans ambiguities between HLA-DRB1 alleles using single-strand conformation polymorphisms and sequencing

Tissue Antigens. 2001 Apr;57(4):300-7. doi: 10.1034/j.1399-0039.2001.057004300.x.

Abstract

DNA-based typing of HLA alleles occasionally results in the inability to assign a specific allele because of ambiguity in associating two or more polymorphisms to the same or to alternate homologs (cis/trans ambiguity). Since most individuals are heterozygous at a given HLA locus, the highest level of confidence in definition is obtained when the alleles are tested in isolation. By using single-strand conformation polymorphisms (SSCP) to separate heterozygous HLA-DRB1 alleles, followed by sequencing of separated conformers, we have achieved resolution of previously ambiguous assignments without the need for additional probes or primers.

MeSH terms

  • Alleles*
  • Amino Acid Sequence
  • Base Sequence
  • Genetic Variation / immunology
  • HLA-DR Antigens / analysis*
  • HLA-DR Antigens / genetics*
  • HLA-DRB1 Chains
  • Histocompatibility Testing / methods
  • Humans
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Polymorphism, Single-Stranded Conformational*
  • Reproducibility of Results
  • Sequence Analysis, DNA / methods
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid

Substances

  • HLA-DR Antigens
  • HLA-DRB1 Chains