Associate professor Soonchunhyang University Seoul Hospital seoul, Seoul-t'ukpyolsi, Republic of Korea
The area of immunogenetics is undergoing a revolution because to next-generation sequencing (NGS), which makes it possible to accurately and precisely identify HLA for exons and introns that had not previously been typed. Our laboratory began using NGS for routine testing in October 2021. Genotyping was performed by NGS on the Illumina MiSeq next generation sequencer. Sequences were determined using locus-specific primers supplied by GenDx. Sequences were analyzed using NGengine. The 16 new alleles were discovered during routine HLA typing (1 HLA-B, 1 DRB1, 3 DRB3, 7 DQA1, 2 DPA1, 2 DPB1). Among them, there were two cases on mismatch in core exon. In one case, DQA1*01:01:08 is the most similar known allele. This allele differs from DQA1*01:01:08 at codon 19 in exon 2. One nucleotide change from C to T (TAC to TAT) results in a synonymous mutation coding for tyrosine. The other was identified in siblings being typed at two different times. DQA1*01:01:01:01 is the most similar known allele and differs from at codon 45 in exon 2. Three nucleotide (AGG) insertion from AAG GAG ACT to AAG GAG GAG ACT results in glutamic acid added to the amino acid sequence. We submitted data to the IPD-IMGT/HLA Database for naming (GenBank, OP487692; IMGT HWS10065829). Historically, many laboratories had not routinely typed the HLA-DQA1 and -DPA1 alleles, which made up the majority of newly identified alleles. All laboratories, vendors, and database administrators will need to make the designation of novel alleles as automatic if the numbers continue to rise.
