Characterization of novel HLA-A*24:608N allele discovered in Koreans

HLA. 2024 Jan;103(1):e15332. doi: 10.1111/tan.15332.

Abstract

A novel null HLA-A*24 allele, HLA-A*24:608N, was identified in five Korean subjects including three from a family and two separate individuals. This study was performed to discern its immunological function in transplantation settings. Because this null variant had deletions of approximately 12 k base pairs from intron 3 to 3' end of the HLA-A gene, low resolution HLA typing and amplicon-based next generation sequencing (NGS) typing methods had failed to assign it. Hybrid capture-based NGS method confirmed that this novel variant had a large deletion. T-lymphocyte crossmatching by complement-dependent lymphocytotoxicity and flow cytometry with a serum consisting anti-HLA-A24 antibody revealed negative results, implying that an individual with this allele would not carry a functioning A24 antigen. These findings highlight the importance of identifying a null HLA allele by employing appropriate molecular method and providing expected crossmatching outcomes in a real-world transplantation setting.

Keywords: HLA; new allele; next-generation sequencing; null variant.

MeSH terms

  • Alleles
  • HLA-A Antigens* / genetics
  • High-Throughput Nucleotide Sequencing* / methods
  • Histocompatibility Testing / methods
  • Humans
  • Introns
  • Republic of Korea

Substances

  • HLA-A Antigens