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Related Concept Videos

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Characterisation of the Novel HLA-B*18:247 Allele Using New Next-Generation Sequencing Methods.

Printil Aho1, Jean-Baptiste Baudey1, Coralie Frassati1

  • 1Immunogenetics Laboratory, Etablissement Français du Sang PACA Corse, Marseille, France.

HLA
|June 16, 2025
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Summary

A novel Human Leukocyte Antigen B (HLA-B) allele, HLA-B*18:247, has been identified. It is distinguished from HLA-B*18:01:01:01 by a single nucleotide substitution in exon 4.

Keywords:
HLA‐B*18:247HLANGSnew methodsnovel allele

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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.
  • Allelic variations within HLA genes, such as HLA-B, are crucial for immune system diversity and function.
  • Accurate HLA typing is essential for transplantation and disease association studies.

Purpose of the Study:

  • To report the characterization of a newly identified HLA-B allele.
  • To describe the specific genetic difference between the novel allele and a known allele.

Main Methods:

  • High-resolution HLA typing methodologies were employed.
  • Nucleotide sequencing was performed to identify genetic variations.
  • Comparative sequence analysis was conducted.

Main Results:

  • A novel HLA-B allele, designated HLA-B*18:247, was discovered.
  • This new allele differs from the well-established HLA-B*18:01:01:01 allele by a single nucleotide substitution.
  • The substitution is located at codon 193 within exon 4 of the HLA-B gene.

Conclusions:

  • The identification of HLA-B*18:247 expands the known HLA-B allele repertoire.
  • This finding underscores the importance of high-resolution typing for comprehensive HLA allele discovery.
  • Understanding such variations is vital for immunogenetic research and clinical applications.