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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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Related Experiment Video

Updated: Feb 17, 2026

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Single Nucleotide Polymorphism Genotyping in Single-Molecule Electronic Circuits.

Gen He^1,2, Jie Li^1,2, Chuanmin Qi²

¹Beijing National Laboratory for Molecular Sciences State Key Laboratory for Structural Chemistry of Unstable and Stable Species College of Chemistry and Molecular Engineering Peking University Beijing 100871 P. R. China.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

|December 5, 2017

Summary

This summary is machine-generated.

This study presents a novel, label-free electronic method for accurate single nucleotide polymorphism (SNP) genotyping. The technique uses a silicon nanowire biosensor to detect genetic variations, offering a simple and efficient alternative to traditional methods.

Keywords:

label‐free detection silicon nanowires single nucleotide polymorphism single‐molecule devices

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Area of Science:

Genomics
Molecular Biology
Nanotechnology

Background:

Accurate single nucleotide polymorphism (SNP) genotyping is crucial for understanding genetic variations and their biological functions.
Existing genotyping methods like PCR and optical techniques can be costly, complex, or require fluorescent labeling.

Purpose of the Study:

To develop a low-cost, high-throughput, simple, and accurate SNP genotyping technique.
To demonstrate a reliable single-molecule approach for precise SNP authentication using electrical signal measurements.

Main Methods:

Fabrication of a high-gain field-effect silicon nanowire decorated with a single hairpin DNA.
Direct measurement of electrical signal fluctuations in response to different target DNAs.
Analysis of probe-target duplex formation proportion, mean lifetime, and unwinding probability.

Main Results:

Successful allele-specific and accurate SNP detection was achieved by comparing duplex formation proportions.
Statistical analyses confirmed the reliability of dynamic parameters for SNP discrimination.
The method proved to be label-free and required simple operation.

Conclusions:

The developed electronic method offers a convenient and label-free approach for SNP genotyping.
This technique complements existing optical methods and shows promise as a next-generation genotyping solution.
The approach provides a futuristic route toward advanced genomic analysis.