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.

• 影响指数: 8.762
• 发表时间: 12 2020
• 来源期刊: HLA
• DOI: 10.1111/tan.14083
• PMID: 33006267
• 文章类型: Case Reports
• 中科院分区: Q4
• 方向: 医学
• 作者列表: Ingrassia F,Pecoraro A,Blando M,Bruno F,Lo Brutto A,Mistretta S,Bavetta R,Cappuzzo V

关键词: IMGT/HLA; NGS; SBT; human leukocyte antigen; null allele

Mesh: Alleles; Female; HLA-DQ beta-Chains / genetics; High-Throughput Nucleotide Sequencing; Histocompatibility Testing; Humans; Nucleotides; Polymerase Chain Reaction; Sequence Analysis, DNA

Abstract

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. 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.