Characterisation of the Novel HLA-DPB1*1810:01 Allele by Short-Read Next Generation Sequencing
Orla Ryan1, Cara Hickey1, Emma Brennan1
1Irish Blood Transfusion Service, National Blood Centre, Dublin, Ireland.
HLA
|June 17, 2026
Summary
The human leukocyte antigen (HLA) DPB1*1810:01 gene variant differs from HLA-DPB1*04:01:01:01 by a single nucleotide change in exon 2. This genetic variation may impact immune system responses and disease susceptibility.
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 autoimmune diseases and drug hypersensitivities.
- Understanding variations within HLA genes is crucial for personalized medicine.
Purpose of the Study:
- To identify and characterize the genetic differences between HLA-DPB1*1810:01 and HLA-DPB1*04:01:01:01.
- To analyze the impact of specific nucleotide changes on HLA-DPB1 protein structure and function.
Main Methods:
- Comparative sequence analysis of HLA-DPB1*1810:01 and HLA-DPB1*04:01:01:01 alleles.
- Identification of nucleotide and amino acid substitutions.
- Bioinformatic analysis to predict functional consequences of the observed genetic variation.
Main Results:
- HLA-DPB1*1810:01 differs from HLA-DPB1*04:01:01:01 by a single nucleotide change (CTG to CCG) in exon 2.
- This results in a non-synonymous substitution, altering the amino acid sequence of the HLA-DPB1 protein.
Conclusions:
- The identified genetic difference between HLA-DPB1*1810:01 and HLA-DPB1*04:01:01:01 is a single non-synonymous mutation in exon 2.
- This variation may lead to functional differences in HLA-DPB1, potentially influencing immune recognition and disease associations.
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