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Related Concept Videos

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,...
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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The cationic polymerization mechanism consists of three steps: initiation, propagation, and termination. In the initiation step of the polymerization process, the π bond of a monomer gets protonated by the Lewis acid catalyst, which is formed from boron trifluoride and water. The protonation of the π bond generates a carbocation stabilized by the electron‐donating group. In the propagation step, the π bond of the second monomer acts as a nucleophile and attacks the generated carbocation,...

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Related Experiment Video

Updated: Jun 22, 2026

The Visual Colorimetric Detection of Multi-nucleotide Polymorphisms on a Pneumatic Droplet Manipulation Platform
10:01

The Visual Colorimetric Detection of Multi-nucleotide Polymorphisms on a Pneumatic Droplet Manipulation Platform

Published on: September 27, 2016

Single-nucleotide polymorphism (SNP) genotyping using cationic conjugated polymers in homogeneous solution.

Xinrui Duan1, Wei Yue, Libing Liu

  • 1Beijing National Laboratory for Molecular Sciences, Key Laboratory of Organic Solids, Institute of Chemistry, Chinese Academy of Sciences, Beijing, China.

Nature Protocols
|June 6, 2009
PubMed
Summary

This study introduces a simple, sensitive method for single-nucleotide polymorphism (SNP) genotyping using a fluorescent polymer and primer extension. This approach simplifies SNP analysis, enhancing accessibility and reducing the need for complex equipment.

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Last Updated: Jun 22, 2026

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Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Single-nucleotide polymorphisms (SNPs) are key genetic variations influencing traits and diseases.
  • Accurate and efficient SNP genotyping is crucial for genetic research and diagnostics.
  • Existing genotyping methods often involve complex procedures, multiple reagents, and specialized instrumentation.

Purpose of the Study:

  • To develop a simplified and highly sensitive method for SNP genotyping.
  • To utilize an optically amplifying cationic conjugated polymer for enhanced detection.
  • To enable SNP discrimination through a single base primer extension reaction.

Main Methods:

  • Employed a cationic conjugated polymer (PFP) and a fluorescein-labeled deoxynucleotide triphosphate (dNTP-Fl).
  • Utilized fluorescence resonance energy transfer (FRET) between PFP and dNTP-Fl.
  • Correlated FRET efficiency with allele-specific primer extension at the SNP site.

Main Results:

  • Demonstrated SNP genotyping through changes in fluorescence intensity.
  • Achieved genotype discrimination by measuring FRET efficiency.
  • The assay requires approximately 2 hours for PCR amplification and 5.5–7.5 hours for genotyping.

Conclusions:

  • The developed method offers a simplified, sensitive, and convenient approach to SNP genotyping.
  • Eliminates the need for primer labeling, extensive workups, and sophisticated instruments.
  • Presents a promising alternative for high-throughput genetic analysis and diagnostics.