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Peptide Identification Using Tandem Mass Spectrometry01:33

Peptide Identification Using Tandem Mass Spectrometry

Tandem mass spectrometry, also known as MS/MS or MS2, is an analytical technique that employs two mass analyzers. Essentially it is a series of mass spectrometers that helps isolate a particular biomolecule and then helps study its chemical properties.
This technique helps gather information regarding the protein from which the peptide was obtained and to study the peptides’ amino acid sequence. Identifying peptides from a complex mixture is an important component of the growing field of...

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Related Experiment Video

Updated: Jul 14, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules.

C Auray-Blais1, D Cyr, R Drouin

  • 1Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, Canada, J1H 5N4. christiane.auray-blais@usherbrooke.ca

Journal of Inherited Metabolic Disease
|June 16, 2007
PubMed
Summary

The Quebec Mass Urinary Screening Programme has screened over 2.5 million newborns for 25 inherited disorders using multiplex thin-layer chromatography. This cost-effective method enables early detection and prevention of serious genetic diseases.

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Area of Science:

  • Medical Genetics
  • Biochemistry
  • Public Health

Background:

  • The Quebec Mass Urinary Screening Programme, established in 1971, screens newborns for inherited Mendelian disorders.
  • The program targets urea cycle disorders, organic acidurias, and amino acid metabolism/transport disorders.

Purpose of the Study:

  • To present the methodology, infrastructure, results, and statistics of the Quebec Mass Urinary Screening Programme.
  • To highlight the development of techniques for detecting treatable genetic disorders, including lysosomal storage disorders like Fabry disease.
  • To report on tandem mass spectrometric analysis of urinary Gb3 for Fabry disease monitoring and potential mass screening.

Main Methods:

  • Multiplex thin-layer chromatography (TLC) with sequential reagent application for metabolite resolution and visualization.
  • Analysis of aminoacidopathies and organic acidurias, detecting disorders detectable only in urine.
  • Tandem mass spectrometry for urinary globotriaosylceramide (Gb3) analysis in Fabry disease.

Main Results:

  • Screened over 2,500,000 newborns for 25 inherited Mendelian disorders.
  • Developed a simple, reproducible, inexpensive, and rapid TLC methodology capable of analyzing 500 samples daily.
  • Achieved excellent voluntary parent compliance, averaging 90% annually.

Conclusions:

  • The Quebec Mass Urinary Screening Programme effectively detects and prevents genetic diseases through early diagnosis.
  • Continuous development of techniques enhances the detection of treatable disorders, expanding screening capabilities.
  • Tandem mass spectrometry shows promise for Fabry disease patient monitoring and potential integration into mass screening programs.