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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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Conditional Displacement Hybridization Assay for Multiple SNP Phasing.

Tsz Wing Fan¹, Henson L Lee Yu¹, I-Ming Hsing¹

¹Department of Chemical and Biomolecular Engineering and ‡Division of Biomedical Engineering, The Hong Kong University of Science and Technology , Clear Water Bay, Kowloon, Hong Kong.

Analytical Chemistry

|August 15, 2017

Summary

This summary is machine-generated.

This study introduces a new assay to quickly determine the phase of single nucleotide polymorphism (SNP) variants. This method offers a faster and more cost-effective way to analyze genetic information for disease prediction.

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Area of Science:

Genomics
Molecular Biology
Biotechnology

Background:

Human genome exhibits high polymorphism with allelic content influencing biological outcomes.
Current diagnostic tools often struggle to determine mutation phase without complex techniques.
Single nucleotide polymorphism (SNP) phasing is crucial for understanding genetic variations.

Purpose of the Study:

To develop a rapid and concurrent assay for determining the presence and phase of SNP variants.
To provide a cost-effective and laboratory-based method for SNP phasing.
To enhance genetic analysis for disease and trait prediction.

Main Methods:

Development of a Conditional Displacement Hybridization Assay (CDHA).
Utilizes short DNA probes for SNP quantification via two-channel fluorescence.
Employs enzymatic displacement and fluorescence quenching to determine SNP phase.

Main Results:

The CDHA successfully determined haplotype phase for tested variants.
The assay provided results in under one hour.
Demonstrated concurrent determination of SNP presence and phase.

Conclusions:

CDHA offers a direct, cost-effective, and rapid method for SNP phasing.
This assay can extract valuable genetic information for disease and trait prediction.
The technique has potential for broad laboratory application in genetic diagnostics.