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Identification of the HLA-DQB1*06:144N Allele by Next-Generation Sequencing
Ruby J Siegel1, Katrin Hacke1, Rose M Ridgley1
1Department of Laboratory Medicine and Pathology, Mayo Clinic, Phoenix, Arizona, USA.
HLA
|February 24, 2026
Summary
A novel HLA-DQB1 allele, HLA-DQB1*06:144N, was identified. It differs from a known allele by a single nucleotide substitution, resulting in a premature stop codon.
Area of Science:
- Immunogenetics
- Molecular biology
Background:
- The Human Leukocyte Antigen (HLA) system plays a critical role in immune responses.
- Polymorphisms in HLA genes, particularly HLA-DQB1, are associated with various autoimmune diseases.
Purpose of the Study:
- To report the identification and characterization of a novel HLA-DQB1 allele.
- To describe the molecular difference between the novel allele and a previously identified allele.
Main Methods:
- Sequence analysis of HLA-DQB1 gene.
- Comparison of nucleotide sequences between different alleles.
Main Results:
- A new HLA-DQB1 allele, designated HLA-DQB1*06:144N, was discovered.
- This novel allele differs from HLA-DQB1*06:03:01:01 by a single nucleotide substitution.
- The substitution results in a premature stop codon within exon 2 of the HLA-DQB1 gene.
Conclusions:
- The identification of HLA-DQB1*06:144N expands the known diversity of HLA-DQB1 alleles.
- The premature stop codon may impact the function of the HLA-DQB1 protein, potentially influencing immune responses.
