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Single Nucleotide Polymorphisms-SNPs01:05

Single 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,...
Sanger Sequencing01:57

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...

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Related Experiment Video

Updated: Jun 10, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Single-base extension and ELISA-based approach for single-nucleotide polymorphisms genotyping.

Guibo Liu1, Yongxia Cheng, Wei Zhao

  • 1Department of Anatomy, Mudanjiang Medical College, Mudanjiang, China.

Applied Biochemistry and Biotechnology
|August 19, 2010
PubMed
Summary

This study introduces a novel, simple, and accurate method for single-nucleotide polymorphism (SNP) genotyping using single-base extension (SBE) and enzyme-linked immunosorbent assay (ELISA). This approach offers a cost-effective alternative for personalized medicine applications.

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Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genetics

Background:

  • Single-nucleotide polymorphisms (SNPs) are crucial for personalized medicine, influencing drug responses and disease risk.
  • Traditional SNP genotyping methods like single-base extension (SBE) can be complex and expensive.

Purpose of the Study:

  • To develop a simplified and cost-effective SNP genotyping assay.
  • To combine single-base extension (SBE) with enzyme-linked immunosorbent assay (ELISA) for SNP detection.

Main Methods:

  • Developed a novel assay utilizing SBE with allele-specific primers labeled with fluorescein isothiocyanate.
  • Employed biotinylated dideoxynucleotides for primer extension at SNP sites.
  • Captured extension products on streptavidin-coated nanoparticles for colorimetric detection via ELISA.

Main Results:

  • Successfully validated the SBE-ELISA method for SNP genotyping.
  • Achieved 100% concordance with DNA sequencing for TP53 gene codon 273 SNPs in 68 individuals.
  • Demonstrated a simple and accurate SNP genotyping assay.

Conclusions:

  • The SBE-ELISA method provides a straightforward and accurate approach for SNP genotyping.
  • This assay is a viable, cost-effective alternative to existing complex methods.
  • The developed method has potential applications in personalized medicine and genetic research.