The Novel HLA-DRB1*13:348 Allele Characterised by Two Different Sequencing-Based Typing Techniques.
Adèle Dhuyser1,2, Michaël Pérès1, Thomas Morel1
1HLA and Histocompatibility Laboratory, CHRU de Nancy, Vandœuvre-lès-Nancy, France.
HLA
|March 4, 2025
Summary
A new Human Leukocyte Antigen (HLA) allele, HLA-DRB1*13:348, has been identified. It differs from a known allele by a single nucleotide substitution, potentially impacting immune responses.
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.
- Accurate HLA allele identification is crucial for clinical applications and understanding immune diversity.
Purpose of the Study:
- To report the discovery and characterization of a novel HLA-DRB1 allele.
- To detail the specific genetic variation differentiating this new allele from known ones.
Main Methods:
- Sequence analysis of the HLA-DRB1 gene.
- Comparison of the novel sequence against existing HLA allele databases.
Main Results:
- A novel HLA-DRB1 allele, designated HLA-DRB1*13:348, was identified.
- This new allele differs from HLA-DRB1*13:02:01:01 by a single non-synonymous nucleotide substitution located in exon 2.
Conclusions:
- The identification of HLA-DRB1*13:348 expands the known HLA allele repertoire.
- This genetic variation may have implications for immune system function and disease susceptibility.
Related Concept Videos
01:49Multiple Allele Traits
The Concept of Multiple Allelism
02:20Blood Types
Human blood is classified into different types based on the presence of antigens on the red blood cell's surface and antibodies in the plasma. Proper identification of blood type is essential for successful blood transfusion. The International Society of Blood Transfusion has identified 38 human blood types based on the surface antigens on the red blood cells. The most common types are ABO, Rh, and MNS blood types.
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:29Modern Molecular Taxonomy
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...