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A novel B*07 variant allele, B*07:416, identified by next-generation sequencing
Mei San Tang1, Brian F Duffy2, Jo-Ellen Jennemann2
1Department of Pathology and Immunology, Washington University in St Louis, St. Louis, Missouri, USA.
HLA
|March 2, 2021
Summary
A novel HLA-B*07:416 allele was identified, differing from the common HLA-B*07:02 allele by a single missense mutation. This genetic variation impacts the human leukocyte antigen (HLA) B gene sequence.
Area of Science:
- Immunogenetics
- Molecular biology
- Human leukocyte antigen (HLA) system
Background:
- The human leukocyte antigen (HLA) system plays a critical role in immune response and transplantation.
- Specific HLA alleles are associated with various diseases and drug hypersensitivities.
- Accurate HLA typing is essential for clinical diagnostics and research.
Purpose of the Study:
- To report the discovery and characterization of a novel HLA-B allele.
- To describe the specific genetic difference between the new allele and a known allele.
Main Methods:
- Sequence analysis of the HLA-B gene.
- Comparison of the novel allele sequence with existing HLA reference sequences.
Main Results:
- A new allele, designated HLA-B*07:416, was identified.
- HLA-B*07:416 differs from HLA-B*07:02 by a single nucleotide polymorphism resulting in a missense mutation at codon 92 of the cDNA sequence.
Conclusions:
- The identification of HLA-B*07:416 expands the known diversity of HLA-B alleles.
- This finding may have implications for HLA typing resolution and understanding immune system variations.
