ABSTRACT
We report the confirmation and full genomic sequence of the HLA‐DQB1*04:01:07 allele.
Keywords: HLA, HLA‐DQB1*04:01:07, new allele, PacBio sequencing
We identified the HLA‐DQB1*04:01:07 allele, in a Chinese individual and extended this sequence to cover the full genomic sequence using PacBio Sequencing. This allele carries one nucleotide substitution in exon 4 when compared with the HLA‐DQB1*04:01:01:01 allele. All classical HLA loci—the HLA‐A, ‐B, ‐C, ‐DRB1, ‐DRB3/4/5, ‐DQA1, ‐DQB1, ‐DPA1 and ‐DPB1—were enriched with the Yiruiyou target‐enrichment kit (Xi'an Haorui Genomics Technology Co. Ltd., Xi'an, China), and the library was sequenced on a PacBio Sequel II high‐throughput gene sequencing platform (PacBio, California, CA), and subsequently analysed by the kit‐matched TransMatch high‐resolution genotyping system and the IPD‐IMGT/HLA Database version 3.60.0 [1].
The sequence of the HLA‐DQB1*04:01:07 allele differs from that of the HLA‐DQB1*04:01:01:01 allele by a single nucleotide change in exon 4 (codon 213 CTC>CTT) (Figure 1), both codons encoding Leucine. The extended HLA typing result for the patient carrying the HLA‐DQB1*04:01:07 allele was as follows: HLA‐A*02:03:01, 11:01:01; ‐B*15:07:01, 55:02:01; ‐C*01:02:01, 03:03:01; ‐DRB1*04:05:01, 12:02:01; ‐DRB3*03:01:03; ‐DRB4*01:03:01; ‐DQA1*03:03:01, 06:01:01; ‐DQB1*03:01:01, 04:01:07; ‐DPA1*01:03:01, 02:02:02; ‐DPB1*02:01:02, 05:01:01.
FIGURE 1.
Alignment of exon 4 of the HLA‐DQB1*04:01:01:01 and HLA‐DQB1*04:01:07 alleles. Dashes indicate identity with the HLA‐DQB1*04:01:01:01 allele. The single nucleotide change between HLA‐DQB1*04:01:01:01 and HLA‐DQB1*04:01:07 in codon 213 is shown. The alignment is produced using the official alignment tool of the IPD‐IMGT/HLA Database.
The nucleotide sequence of the new allele has been submitted to GenBank (OQ731800) and the IPD‐IMGT/HLA Database (No. HWS10101723). The name HLA‐DQB1*04:01:07 has been officially assigned by the WHO Nomenclature Committee for Factors of the HLA System in June 2013, our confirmation of this sequence was submitted in October 2025. This follows the agreed policy that, subject to the conditions stated in the most recent Nomenclature Report [2], names will be assigned to new sequences as they are identified. Lists of such new names will be published in the following WHO Nomenclature Report.
Author Contributions
Caixia Wang and Xuan Zhang performed the experiment, Shaohua Shi and Tingting Liu analysed the data, Caixia Wang wrote the paper.
Funding
This research was funded by ‘Shanxi Health Commission Research Project, Grant No. 2023XG037’.
Conflicts of Interest
The authors declare no conflicts of interest.
Acknowledgements
All the experiments comply with the regulations in China. This work was supported by the ‘Shanxi Health Commission Research Project, Grant No. 2023XG037’.
Data Availability Statement
This data is freely available from the IPD‐IMGT/HLA Database.
References
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
This data is freely available from the IPD‐IMGT/HLA Database.