Nucleic acid diagnostics based on mass spectrometry or mass separation and base specific cleavage

US6994960B1 · kind B1 · utility

Assignee

• THE WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH · AU

Inventors

• Simon Foote · Parramatta, AU
• Colleen Elso · Melbourne, AU
• Richard Simpson · Burgate, GB
• Gavin Reid · Big Rapids, US

Key dates

• Filing date: May 28, 1998
• Grant date: Feb 7, 2006
• Expiry date: May 28, 2018

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q1/683
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

A method of detecting a mutation or a difference of one or more nucleotides between a nucleic acid molecule to be tested and a reference nucleic acid molecule, said method comprising subjecting the test nucleic acid molecule to base specific cleavage to generate oligonucleotide fragments, separating the resulting oligonucleotide fragments based on mass by MALDI-ATOF MS and/or other equivalent procedure to produce a fingerprint of then oligonucleotide fragments comprising one or more peaks wherein a peak represents the mass of each fragment and identifying an altered peak relative to a reference nucleic acid molecule subjected to the same procedure wherein the presence of an altered peak is indicative of a difference of one or more nucleotides in said tested nucleic acid molecule.