HLA-A*02010102L: a laborious assignment

Tissue Antigens. 2006 Nov;68(5):442-5. doi: 10.1111/j.1399-0039.2006.00682.x.

Abstract

In the present report we describe the laborious identification of the A*02010102L allele found in three healthy individuals of a French family who have shown a reduced A2 antigen expression using serological tests since the 1980s. PCR-SSP typing showed a classical A*0201 allele. Sequencing of exons 2, 3 and 4 confirmed this assignment. Sequencing of the whole gene (promoter, introns and exons 1-8) revealed one single point mutation (T to C) at position -101 in the enhancer B element region compared to the A*02010101 allele. This single mutation appears to be related to the reduced expression of the A2 antigen. This allele segregates with the haplotype Cw*12, B44, DR7, DQ2, which is different to the one described earlier.

MeSH terms

  • Alleles
  • Base Sequence
  • HLA-A Antigens / classification*
  • HLA-A Antigens / genetics*
  • HLA-A Antigens / metabolism
  • HLA-A2 Antigen / genetics
  • HLA-A2 Antigen / metabolism
  • Humans
  • Molecular Sequence Data
  • Sequence Alignment

Substances

  • HLA-A Antigens
  • HLA-A*02:01:01:02L antigen
  • HLA-A2 Antigen

Associated data

  • GENBANK/AM286552