Identification of a single nucleotide deletion in the novel HLA-DQB1*06:379N allele, detected by Polymerase Chain Reaction-Sequence Based Typing but not by Next Generation Sequencing.

In this report we describe the characterization of a novel null HLA-DQB1 allele, detected by polymerase chain reaction-sequence-based typing but not by next-generation sequencing (NGS). The new allele, HLA-DQB1*06:379N, was discovered in an Italian patient with acute myeloid leukemia and also in one of her healthy siblings. The new allele is largely homologous to DQB1*06:02:01:01 with a T deletion in exon 2, in codon 11, which causes a frameshift and the formation of an unusual and premature TGA STOP in codon 27.

The novel HLA-A*68 variant, HLA-A*68:02:16, identified by next-generation sequencing.

HLA-A*68:02:16 differs from A*68:02:01:01 by a single synonymous nucleotide change in codon 160 (CTG>CTA).

Characterization of the novel HLA-DPA1 allele, HLA-DPA1*01:27.

HLA-DPA1*01:27 differs from DPA1*01:03:01:01 by a single non-synonymous nucleotide change in codon 15 (ACG > ATG).