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Identification of the Novel Allele, HLA-DQB1*03:577, by Next-Generation Sequencing
Antonio Giuseppe Bianculli1, Paola Giustiniani1, Tiziana Galluccio1
1Laboratory of Immunogenetics and Transplant, Complex Operative Unit of Oncohematology, Hematopoietic Transplantation and Cellular Therapies, IRCCS Bambino Gesù Pediatric Hospital, Rome, Italy.
HLA
|November 24, 2025
Summary
A novel Human Leukocyte Antigen (HLA) variant, HLA-DQB1*03:577, has been identified. This new allele differs from the common HLA-DQB1*03:01:01:01 by a single nucleotide substitution.
Area of Science:
- Immunogenetics
- Molecular biology
- Human leukocyte antigen (HLA) research
Background:
- The Human Leukocyte Antigen (HLA) system plays a critical role in immune response.
- Polymorphisms in HLA genes, particularly HLA-DQB1, are associated with various autoimmune diseases.
- Accurate HLA typing is essential for transplantation and disease association studies.
Purpose of the Study:
- To characterize a newly identified HLA-DQB1 allele.
- To document the specific genetic variation distinguishing the novel allele from a known common allele.
Main Methods:
- Nucleotide sequencing of the HLA-DQB1 gene.
- Comparison of the novel sequence with existing HLA reference sequences.
Main Results:
- A novel HLA-DQB1 allele, designated HLA-DQB1*03:577, was identified.
- This new allele differs from HLA-DQB1*03:01:01:01 by a single nucleotide substitution (G>A) at position 5565 in the exon 4 region.
Conclusions:
- The identification of HLA-DQB1*03:577 expands the known HLA-DQB1 allele repertoire.
- This specific nucleotide substitution may have implications for immune response and disease susceptibility.
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