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Updated: Jul 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel allele, HLA-G*010114, with a non-coding DNA base change in exon 2
A Arnaiz-Villena1, J I Serrano-Vela, R Reguera
1Department of Immunology, Universidad Complutense, The Madrid Regional Blood Center, Madrid, Spain. aarnaiz@med.ucm.es
The human leucocyte antigen (HLA)-G locus exhibits high DNA diversity but low protein variation, suggesting evolutionary pressure for functional invariance. This may be linked to its proposed immunotolerogenic role.
Area of Science:
- Immunogenetics
- Molecular Evolution
Background:
- The human leucocyte antigen (HLA)-G locus is a non-classical class I gene.
- HLA-G plays a role in immune tolerance, particularly during pregnancy and transplantation.
Purpose of the Study:
- To investigate the DNA and protein polymorphism of the HLA-G locus.
- To explore the evolutionary forces shaping HLA-G diversity in relation to its function.
Main Methods:
- Analysis of DNA sequences and protein coding regions of HLA-G.
- Comparison of DNA polymorphism with protein polymorphism.
Main Results:
- HLA-G shows significant DNA polymorphism (28 alleles) but limited protein polymorphism (eight proteins).
- Most DNA variations occur at third codon positions, not altering amino acid sequences.
- A notable disparity exists between high DNA diversity and low protein diversity.
Conclusions:
- Evolutionary mechanisms favor functional invariance at the protein level for HLA-G.
- The observed pattern supports the hypothesis of HLA-G's role in maintaining immunotolerance.
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