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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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Genome-wide Association Studies-GWAS01:11

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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...
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Related Experiment Video

Updated: May 17, 2025

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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The Novel HLA-C*07:1088 Allele Characterised by Two Different Sequencing-Based Typing Techniques.

Michaël Pérès1, Adèle Dhuyser1,2, Thomas Morel1

  • 1HLA and Histocompatibility Laboratory, CHRU de Nancy, Vandœuvre-lès-Nancy, France.

HLA
|May 16, 2025
PubMed
Summary

A new human leukocyte antigen (HLA) allele, HLA-C*07:1088, has been identified. This novel HLA allele differs from the known HLA-C*07:01:01:01 by a single nucleotide substitution.

Keywords:
HLAHLA‐Cnovel allelesequencing‐based typing

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Area of Science:

  • Immunogenetics
  • Molecular biology
  • Human leukocyte antigen (HLA) research

Background:

  • The human leukocyte antigen (HLA) system plays a critical role in immune response.
  • Genetic variations in HLA alleles contribute to diverse immune functions and disease susceptibility.
  • Accurate characterization of novel HLA alleles is essential for immunological studies and clinical applications.

Purpose of the Study:

  • To report the discovery and initial characterization of a novel HLA allele.
  • To detail the specific genetic difference between the novel allele and a known reference allele.

Main Methods:

  • Sequence analysis of the novel allele.
  • Comparison of the novel allele's sequence with existing HLA allele databases.
  • Identification of nucleotide substitutions and their locations.

Main Results:

  • A novel HLA allele, designated HLA-C*07:1088, was identified.
  • This new allele differs from HLA-C*07:01:01:01 by a single nucleotide substitution.
  • The substitution is non-synonymous and located in exon 3 of the HLA-C gene.

Conclusions:

  • The identification of HLA-C*07:1088 expands the known repertoire of HLA-C alleles.
  • This single nucleotide substitution represents a specific genetic marker for this novel allele.
  • Further studies are warranted to understand the potential functional and clinical implications of HLA-C*07:1088.