Sequence analysis and identification of novel human leukocyte antigen alleles DQB1*06:436 and DQB1*02:108

doi:10.12307/2025.574

Abstract

Abstract: BACKGROUND: The human leukocyte antigen (HLA) system is highly genetically polymorphic and plays an important role in antigen presentation and immune recognition. It is mainly used in the fields of hematopoietic stem cell transplantation and organ transplantation donor selection, population genetics, and transfusion medicine
OBJECTIVE: To confirm the new alleles HLA-DQB1*06:436 and HLA-DQB1*02:108 and analyze the nucleotide sequences.
METHODS: DNA sequence-based typing was performed for HLA testing on Chinese hematopoietic stem cell donors in 2019. It was found that there was no completely matching allele at the DQB1 locus of the two samples. The second-generation sequencing method was used to sequence the DQB1 loci of the two samples and analyze the nucleotide differences.
RESULTS AND CONCLUSION: Compared with the HLA-DQB1*06:79:01 with the highest homology, the DQB1 locus of sample 1 replaced the base T with G at position 205 of exon 2, resulting in the change of amino acid 37 from tyrosine (Tyr) to aspartic acid (Asp). Compared with the HLA-DQB1*02:01:01:01 with the highest homology, the DQB1 locus of sample 2 underwent a G>A mutation at position 485 of exon 3, and the amino acid 130 changed from arginine (Arg) to glutamine (Gln). The experiment verified that both alleles were new HLA-DQB1 alleles, which were named HLA-DQ B1*06:436 and HLA-DQB1*02:108 by the World Health Organization HLA Factor Nomenclature Committee.

Key words: human leukocyte antigen, genotyping, novel allele, base mutation, SBT, NGS, DQB1

CLC Number:

Wang Manni, Wang Xiaofang, Wang Tianju, Shang Lixia, Chen Le, Li Yuhui, Zhang Yuan, Qi Jun. Sequence analysis and identification of novel human leukocyte antigen alleles DQB1*06:436 and DQB1*02:108[J]. Chinese Journal of Tissue Engineering Research, 2026, 30(7): 1782-1789.

Figures/Tables 4

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