The Novel HLA-DQB1*03:01:59 Allele Characterised by Two Different Sequencing-Based Typing Techniques
Adèle Dhuyser1,2, Michaël Pérès1, Thomas Morel1
1HLA and Histocompatibility Laboratory, CHRU de Nancy, Vandœuvre-lès-Nancy, France.
HLA
|March 4, 2025
Summary
A new human leukocyte antigen (HLA) allele, HLA-DQB1*03:01:59, has been identified. This novel allele is distinguished from a known allele by a single nucleotide change in exon 2.
Area of Science:
- Immunogenetics
- Molecular biology
- Human leukocyte antigen (HLA) research
Background:
- The human leukocyte antigen (HLA) system plays a crucial role in immune response and transplantation.
- Accurate HLA typing is essential for matching donors and recipients and understanding immune-related diseases.
- Continuous discovery of novel HLA alleles refines our understanding of immune diversity.
Purpose of the Study:
- To report the identification and characterization of a novel HLA-DQB1 allele.
- To describe the specific genetic difference between the novel and a known HLA-DQB1 allele.
Main Methods:
- High-resolution HLA typing techniques were employed.
- Nucleotide sequencing of relevant exons was performed to identify variations.
- Comparison of the novel sequence with existing HLA allele databases.
Main Results:
- A novel HLA allele, designated HLA-DQB1*03:01:59, was discovered.
- This new allele differs from HLA-DQB1*03:01:01:01 by a single synonymous nucleotide substitution.
- The substitution is located within exon 2 of the HLA-DQB1 gene.
Conclusions:
- The identification of HLA-DQB1*03:01:59 expands the known repertoire of HLA-DQB1 alleles.
- This finding contributes to the ongoing efforts in high-resolution HLA typing and immunogenetic databases.
- Understanding such variations is important for immunological studies and clinical applications.


