Popis: |
Background: The major histocompatibility complex in humans includes three classical class I loci (A, B and C), which are important biomarkers for transplant of organs and hematopoietic stem cells. In the MHC, polymorphism is known to be extremely high while interlocus recombination is rare. We report a rare interlocus recombination between HLA-A and HLA-H, which was analyzed using next generation sequencing and nanopore sequencing. Results: In the sample, the genotypes of HLA-A, B, C, DRB1 and DQB1 were firstly phased with methods of sequence-specific primer, sequence-specific oligonucleotide, Sanger’s sequencing and NGS; however, HLA-A could not be phased. Nanopore sequencing was finally utilized to distinguish the sequence of the novel allele. Finally, the novel HLA-A*11:335 allele was identified as an interlocus recombination involving HLA-A*11:01:01:01 and HLA-H*02:07/14/18 alleles; this was mainly achieved by nanopore sequencing. Conclusions: The identification of the interlocus recombination indicated that nanopore sequencing may be the most precise method for HLA typing. Interlocus recombination has been identified as one of the mechanisms involved in the generation of novel HLA alleles. |