A deletion in exon 3 results in a new HLA-A*01 null allele (A*0115N) in a Martinican woman

Tissue Antigens. 2006 Jan;67(1):61-3. doi: 10.1111/j.1399-0039.2005.00528.x.

Abstract

We report the identification of a new HLA-A null allele, HLA-A*0115N. This null allele has been identified within the A*01 group by a combination of serological and molecular typing [Polymerase chain reaction (PCR) sequence-specific primers, PCR sequence-specific oligoprobes and sequence-based typing (SBT)] in a potential intrafamilial bone marrow donor from Martinique (French West Indies). To characterize this A*01 null allele, we performed DNA typing by PCR-SBT on genomic DNA from the beginning of exon 2 (position 84) through the end of the exon 4 (position 895) and revealed a nucleotide deletion at the end of the exon 3. This sole difference between the new allele and the HLA-A*0101 generates a premature stop codon (TGA) in the beginning of exon 4. This deletion most likely explains the lack of cell surface expression of the encoded protein despite the presence of A*01 allele. The absence of correct expression of the antigen on the cell surface was confirmed by one-dimensional isoelectric focusing (1D-IEF). To date, this is the fourth null allele described within the A*01 group.

MeSH terms

  • Alleles*
  • Base Sequence
  • Exons / genetics*
  • Female
  • HLA-A Antigens / genetics*
  • HLA-A1 Antigen
  • Humans
  • Martinique
  • Molecular Sequence Data
  • Sequence Alignment
  • Sequence Deletion*

Substances

  • HLA-A Antigens
  • HLA-A*01:15N antigen
  • HLA-A1 Antigen

Associated data

  • GENBANK/AY362881
  • GENBANK/AY362882
  • GENBANK/AY362883