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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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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

SNPs detection by a single-strand specific nuclease on a PNA zip-code microarray.

Hyo Young Mun¹, Agnishwar Girigoswami, Cheulhee Jung

¹Department of Chemical and Biomolecular Engineering, Korea Advanced Institute of Science and Technology, Yuseong-gu, Daejeon, Republic of Korea.

Biosensors & Bioelectronics

|October 22, 2008

Summary

This summary is machine-generated.

This study introduces a novel peptide nucleic acid (PNA) microarray method for detecting single nucleotide polymorphisms (SNPs). The system utilizes a single-strand specific (SSS) nuclease to accurately identify genetic mutations, aiding in disease diagnosis.

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Area of Science:

Molecular Biology
Genetics
Biotechnology

Background:

Accurate detection of genetic variations like single nucleotide polymorphisms (SNPs) is crucial for understanding human diseases.
Existing methods for SNP detection can be complex and require specialized equipment.

Purpose of the Study:

To develop a reliable peptide nucleic acid (PNA) microarray-based method for accurate SNP detection.
To establish a sensitive system for genotyping human genetic mutations.

Main Methods:

Utilized PCR amplification to generate gene fragments containing mutation sites.
Employed a single-strand specific (SSS) nuclease assay with chimeric PNA probes on a microarray.
Leveraged the mismatched cleavage activity of SSS nuclease to differentiate between perfect and imperfect DNA matches.

Main Results:

Demonstrated successful genotyping of Korean-specific BRCA mutation sites using wild-type and mutant samples.
Showcased that SSS nuclease cleaves mismatched heteroduplex DNA, leaving perfectly matched probes intact.
Intact probes generated fluorescence signals on the PNA zip-code array after streptavidin-Cy3 treatment.

Conclusions:

Developed a dependable SSS nuclease-based system for diagnosing human genetic mutations and SNPs.
The PNA microarray method offers a reliable approach for high-throughput genetic analysis.
This technique has potential applications in clinical diagnostics and personalized medicine.