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Identification of HLA-A*2306
S T Cox1, A J McWhinnie, F A Baker
1Anthony Nolan Research Institute and Histocompatibility Laboratories, The Royal Free Hospital, London, United Kingdom.
Tissue Antigens
|February 13, 2001
Summary
A novel human leukocyte antigen (HLA) allele, A*2306, was identified in an African-American individual. This new HLA-A23 variant differs by a single nucleotide from A*2301, resulting in an amino acid change.
Area of Science:
- Immunogenetics
- Molecular biology
Background:
- Human Leukocyte Antigen (HLA) typing is crucial for transplantation and disease association studies.
- Accurate HLA allele identification ensures reliable genetic data.
Purpose of the Study:
- To report the discovery and characterization of a novel HLA-A23 allele, designated A*2306.
- To detail the methods used to identify and confirm this new allele.
Main Methods:
- High-resolution HLA typing using direct sequencing and reference strand mediated conformation analysis (RSCA).
- Analysis of DNA from an African-American individual during a quality control exercise.
- Sequencing data interpretation, focusing on heterozygous peaks and nucleotide polymorphisms.
Main Results:
- A novel heterozygous peak at position 331 in exon 2 was detected during HLA typing.
- RSCA confirmed a true variant, leading to the identification of the new allele A*2306.
- A*2306 differs from A*2301 by one nucleotide at position 331, causing an amino acid substitution at residue 87.
Conclusions:
- The novel HLA-A23 allele, A*2306, has been identified and characterized.
- This finding highlights the importance of rigorous quality control in HLA typing to detect rare variants.
- The new allele contributes to the known diversity of HLA-A genes.