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Updated: Mar 12, 2026
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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The Novel Allele, HLA-DPA1*01:213, With a Non-Synonymous Mutation in Exon 3.
Diamanto Kouniaki1, Theofilos Athanassiades1, Christina Salamaliki1
1Immunology and Histocompatibility Department, Evangelismos General Hospital, Athens, Greece.
HLA
|March 11, 2026
Summary
The HLA-DPA1*01:213 allele was identified with a specific genetic change. This single nucleotide substitution alters the DNA sequence at codon 163.
Area of Science:
- Immunogenetics
- Molecular Biology
Background:
- The Human Leukocyte Antigen (HLA) system plays a crucial role in immune responses.
- Specific HLA alleles are associated with various autoimmune diseases and transplantation outcomes.
Purpose of the Study:
- To characterize a novel variant of the HLA-DPA1 gene.
- To document the precise genetic alteration in the HLA-DPA1*01:213 allele.
Main Methods:
- DNA sequencing was employed to analyze the HLA-DPA1 gene.
- Bioinformatic tools were used to identify nucleotide substitutions.
Main Results:
- A single nucleotide substitution was detected in the HLA-DPA1*01:213 allele.
- The substitution occurred at codon 163, changing the DNA sequence from TGC to CGC.
Conclusions:
- The HLA-DPA1*01:213 allele is defined by a specific TGC to CGC substitution at codon 163.
- This precise molecular characterization is essential for future immunogenetic studies and clinical applications.
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