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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: Jul 23, 2025

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Universal probe-based SNP genotyping with visual readout: a robust and versatile method.

Zhongzhong Wang¹, Zhang Zhang¹, Wang Luo¹

¹Key Laboratory of Clinical Laboratory Diagnostics (Chinese Ministry of Education), College of Laboratory Medicine, Chongqing Medical Laboratory Microfluidics and SPRi Engineering Research Center, Chongqing Medical University, Chongqing 400016, P.R. China. guomingxie@cqmu.edu.cn.

|July 19, 2023

Summary

This summary is machine-generated.

This study introduces a new method for single nucleotide polymorphism (SNP) typing using tailed primers and universal probes with a lateral flow assay. This approach offers rapid, accurate, and reliable genetic analysis for personalized medicine.

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Area of Science:

Molecular Biology
Genetics
Biotechnology

Background:

Single nucleotide polymorphisms (SNPs) are crucial for personalized medicine, but current detection methods are inefficient.
Existing clinical detection methods face challenges like primer dimerization and require target-specific system redesigns, leading to delays and increased labor.

Purpose of the Study:

To develop a robust and versatile method for single nucleotide polymorphism (SNP) typing.
To overcome limitations of current SNP detection methods, such as primer dimerization and lengthy processes.

Main Methods:

Utilized tailed primers and universal small molecule probes.
Integrated the assay with a visualized lateral flow assay (LFA).
Applied the universal assay to genotype four SNP loci in clinical samples.

Main Results:

The new method enables rapid typing of diverse SNP targets.
Successfully eliminated primer dimer interference, enhancing result accuracy and reliability.
Genotyping results from the universal assay were consistent with Sanger sequencing.

Conclusions:

Established a universal "typing formula" using nucleic acid tags and small molecule probes.
Developed a powerful and versatile genotyping platform for genetic analysis and molecular diagnostics.
The method offers a significant advancement for clinical diagnosis and personalized treatment strategies.