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Next generation sequencing reveals a novel HLA-C allele, HLA-C*16:201
Mirzokhid Rakhmanov1, Murielle Verboom2, Martin Bernheiden1
1Freiburg University Medical Center, Faculty of Medicine, Institute for Transfusion Medicine and Gene Therapy, University of Freiburg, Freiburg, Germany.
HLA
|January 31, 2023
Summary
A novel Human Leukocyte Antigen (HLA) variant, HLA-C*16:201, has been identified. It differs from the known HLA-C*16:01:01 by a single nucleotide substitution affecting codon 73.
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.
- Detailed characterization of HLA alleles is essential for understanding immune diversity and disease associations.
Purpose of the Study:
- To report the identification and characterization of a new HLA-C allele, HLA-C*16:201.
- To describe the specific genetic difference between HLA-C*16:201 and a previously known allele.
Main Methods:
- Sequence analysis of HLA genes.
- Comparison of nucleotide sequences between novel and known alleles.
Main Results:
- A new HLA-C allele, designated HLA-C*16:201, was identified.
- This allele differs from HLA-C*16:01:01 by a single nucleotide substitution at codon 73 (ACT to GCT).
Conclusions:
- The discovery of HLA-C*16:201 expands the known allelic diversity within the HLA-C locus.
- This finding contributes to the ongoing efforts in high-resolution HLA typing and population genetics.

