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Single Nucleotide Polymorphisms-SNPs

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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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.
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Related Experiment Video

Updated: Jun 2, 2026

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

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

Published on: September 27, 2016

A graphene-based platform for single nucleotide polymorphism (SNP) genotyping.

Meng Liu¹, Huimin Zhao, Shuo Chen

¹Key Laboratory of Industrial Ecology and Environmental Engineering (Ministry of Education, China), School of Environmental Science and Technology, Dalian University of Technology, Dalian 116024, China.

Biosensors & Bioelectronics

|April 26, 2011

Summary

This summary is machine-generated.

This study introduces a fast and sensitive fluorescent method for detecting single nucleotide polymorphisms (SNPs) using DNA ligase and graphene. The approach accurately identifies low-frequency SNPs, enabling precise genetic analysis.

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Area of Science:

Biochemistry
Molecular Biology
Nanotechnology

Background:

Single nucleotide polymorphisms (SNPs) are crucial genetic markers for various diseases and traits.
Existing SNP detection methods often face challenges with sensitivity, speed, or cost-effectiveness.
Developing rapid and accurate SNP genotyping tools is essential for personalized medicine and genetic research.

Purpose of the Study:

To develop a facile, rapid, stable, and sensitive fluorescent detection method for single nucleotide polymorphisms (SNPs).
To leverage DNA ligase activity and graphene's π-stacking properties for enhanced SNP detection.
To demonstrate the capability of the proposed method for accurate SNP genotyping, even at low frequencies.

Main Methods:

Utilizing a DNA ligase reaction that selectively ligates perfectly matched DNA strands.
Incorporating graphene as a quenching agent, exploiting its differential adsorption affinity for single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA).
Developing a fluorescent assay based on the combined action of DNA ligase and graphene for SNP discrimination.

Main Results:

The developed method exhibits high sensitivity and stability for fluorescent SNP detection.
Accurate SNP genotyping was achieved within 40 minutes, with a detection limit for SNPs as low as 2.6% frequency.
The system demonstrated high discriminability between perfectly matched and one-base mismatched DNA targets.

Conclusions:

The proposed DNA ligase-graphene based fluorescent assay provides a robust and efficient platform for SNP detection.
This flexible strategy offers a promising approach for high-throughput SNP genotyping and other biosensing applications.
The method's speed and sensitivity make it suitable for various genetic analysis scenarios.