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Related Experiment Video

Updated: Jul 23, 2026

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Genosnip: SNP genotyping by MALDI-TOF MS using photocleavable oligonucleotides.

T Wenzel¹, T Elssner, K Fahr

¹Bruker Daltonik GmbH, Leipzig, Germany. tw@bsax.de

Nucleosides, Nucleotides & Nucleic Acids

|October 21, 2003

Summary

A novel photocleavable building block enables simplified SNP genotyping. This method uses photocleavage and mass spectrometry for efficient analysis of allele-specific primer extension products.

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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Area of Science:

Biochemistry
Molecular Biology
Analytical Chemistry

Background:

Genotyping, the process of determining an individual's genetic information, is crucial for various biological and medical applications.
Current genotyping methods can be complex and require extensive sample preparation.
Developing efficient and accessible genotyping techniques is an ongoing area of research.

Purpose of the Study:

To synthesize and incorporate a photocleavable o-nitrobenzyl phosphoramidite building block into oligonucleotides.
To develop a streamlined method for single nucleotide polymorphism (SNP) genotyping.
To enhance the accessibility of genotyping analysis using mass spectrometry.

Main Methods:

Synthesis of a photocleavable phosphoramidite building block.
Incorporation of the building block into oligonucleotides.
Allele-specific primer extension.
Desalting using genostrep purification plates.
Photocleavage to release SNP-containing fragments.
Matrix-assisted laser desorption/ionization-time-of-flight (MALDI-TOF) analysis.
Incorporation of mass-modified nucleosides for multiplexing.

Main Results:

Successful synthesis and incorporation of the photocleavable building block.
Photocleavage effectively released shortened oligonucleotide fragments containing SNP information.
These shortened fragments were readily analyzed by MALDI-TOF.
The method demonstrated potential for efficient SNP detection.
Incorporation of mass-modified nucleosides allowed for flexible multiplex genotyping designs.

Conclusions:

The developed photocleavable phosphoramidite building block offers a simplified approach to SNP genotyping.
This method facilitates easier analysis through photocleavage and MALDI-TOF.
The strategy is adaptable for multiplex genotyping, offering flexibility in experimental design.