Single molecule real-time DNA sequencing of the full HLA-E gene for 212 reference cell lines

HLA. 2020 Jun;95(6):561-572. doi: 10.1111/tan.13882. Epub 2020 Apr 15.

Abstract

We have developed a genotyping assay that produces fully phased, unambiguous HLA-E genotyping using Pacific Biosciences' single molecule real-time DNA sequencing. In total 212 cell lines were genotyped, including the panel of 107 established at the 10th International Histocompatibility Workshop. Our results matched the previously known HLA-E genotype in 94 (44.3%) cell lines, in all cases either improving or equalling previous genotyping resolution. Three (1.4%) cells had discrepant HLA-E genotyping data and 115 (54.2%) had no previous HLA-E data. The HLA-E genotypes for four (1.9%) cell lines resulted in a change of zygosity by identifying two distinct haplotypes. We discovered eight novel HLA-E alleles, extended the known reference sequence of seven and confirmed the existence of a further 10.

Keywords: HLA; HLA-E; International HLA and Immunogenetics Workshop; SMRT sequencing; cell lines; genetic polymorphism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cell Line
  • Genotype
  • HLA Antigens
  • High-Throughput Nucleotide Sequencing*
  • Histocompatibility Antigens Class II* / genetics
  • Histocompatibility Testing
  • Sequence Analysis, DNA

Substances

  • HLA Antigens
  • Histocompatibility Antigens Class II