ABSTRACT
HLA‐B*07:02:112 differs from HLA‐B*07:02:01:01 by a synonymous substitution in exon 4.
Keywords: HLA‐B*07:02:112, new HLA allele, next‐generation sequencing, synonymous substitution
We describe here the identification of HLA‐B*07:02:112 in a Brazilian volunteer bone marrow donor enrolled in the National Registry of Volunteer Bone Marrow Donors (REDOME), following informed consent. Genomic DNA was obtained from peripheral blood using the QIAamp 96 DNA QIAcube HT Kit on the QIAcube HT platform (Qiagen). High‐resolution HLA typing was initially performed by next‐generation sequencing (NGS) using the AllType FASTPlex NGS 11 Loci kit (One Lambda, Thermo Fisher), with sequencing carried out on the iSeq 100 platform (Illumina). Sequence data were analysed with TypeStream Visual software version 3.0.0, using IPD‐IMGT/HLA Database release 3.53.0 [1]. Confirmation of the allele was achieved through an independent typing approach using the NGSgo MX6‐1 and Library Full Kit (GenDx), also sequenced on the iSeq 100 platform (Illumina), and analysed with NGSengine version 2.31.0.30527.
Alignment of the sequence revealed that HLA‐B*07:02:112 differs from the closely related HLA‐B*07:02:01:01 allele by a single synonymous nucleotide substitution in exon 4 at codon 183. At this position, GAC is replaced by GAT, with no change in the encoded amino acid sequence of the HLA‐B molecule, as both codons specify Aspartic Acid (Figure 1).
FIGURE 1.
Alignment of exon 4 sequences of HLA‐B*07:02:112 and the closely related HLA‐B*07:02:01:01 allele. Dashes indicate nucleotide identity to the HLA‐B*07:02:01:01 allele sequence. Numbers above indicate codon positions. The nucleotide substitution in codon 183 changes GAC to GAT, representing a synonymous substitution with no amino acid change.
The complete HLA genotype was HLA‐A*02:01:01, 23:01:01; ‐B*07:02:112, 44:03:01; ‐C*04:01:01, 07:02:01; ‐DRB1*01:03:01, 07:01:01; ‐DRB4*01:EMVXK; ‐DQA1*01:01:01, 02:01:01; ‐DQB1*02:EDYCV, 05:EVTBG; ‐DPA1*01:03:01, 01:03:01; ‐DPB1*02:AFCTE, 04:FNVS.
The sequence was submitted to GenBank under accession number PX312180 and to the IPD‐IMGT/HLA Database under HLA45898. The name HLA‐B*07:02:112 has been officially assigned by the WHO Nomenclature Committee for Factors of the HLA System in February 2026 [2].
Author Contributions
Emerson Fernando Garcia Machado performed the research and wrote the manuscript. Josiane Aparecida Linhares submitted the sequence data to GenBank and the IPD‐IMGT/HLA Database. Maria Eduarda Dugonski, Helena Bianchi Cazarote and Cristina de Queiroz Carrascosa Von Glehn contributed to the data analysis and critically revised the manuscript.
Conflicts of Interest
The authors declare no conflicts of interest.
Data Availability Statement
The data that support the findings of this study are openly available in GenBank under accession number PX312180 and in the IPD‐IMGT/HLA Database under accession number HLA45898.
References
- 1. Barker D. J., Natarajan R. H. L., Cooper M. A., et al., “The IPD‐IMGT/HLA Database: Recent Developments in Sequence Submission,” Nucleic Acids Research 54 (2026): D1152–D1158. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 2. Marsh S. G. E., Osoegawa K., Bodmer W. F., et al., “Nomenclature for Factors of the HLA System, 2026,” HLA 107 (2026): e70595. [DOI] [PMC free article] [PubMed] [Google Scholar]
Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
The data that support the findings of this study are openly available in GenBank under accession number PX312180 and in the IPD‐IMGT/HLA Database under accession number HLA45898.