{'fraction_non_alphanumeric': 0.03345280764635603, 'fraction_numerical': 0.03345280764635603, 'mean_word_length': 4.549668874172186, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Identification of a single nucleotide deletion in one HLA-DQB1 allele detected by PCR-SBT but not by NGS. The new Null allele HLA-DQB1*06:379N.

In this report we describe the characterization of a novel null HLA-DQB1 allele, detected by PCR-SBT but not by 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. This case report underlines the importance of not removing Sanger method sequencing from routine use for high resolution HLA typing, but to maintain it together with NGS technology. This article is protected by copyright. All rights reserved.