DNA diagnostics based on mass spectrometry
AssigneeSequenom, Inc.
InventorHubert Köster
Life of this patent
Estimating the term…
Abstract
Fast and highly accurate mass spectrometry-based processes for detecting particular nucleic acid molecules and sequences in the molecules are provided. Depending upon the sequence to be detected, the processes, for example, can be used to diagnose a genetic disease or a chromosomal abnormality, a predisposition to a disease or condition, or infection by a pathogen, or for determining identity or heredity.
Claims18
A process for detecting a target nucleic acid sequence present in a biological sample, comprising the steps of:
- a) obtaining a nucleic acid molecule from a biological sample;
- b) immobilizing the nucleic acid molecule onto a solid support to produce an immobilized nucleic acid molecule;
- c) hybridizing detector oligonucleotide with the immobilized nucleic acid molecule and removing unhybridized detector oligonucleotide;
- d) ionizing and volatizing the product of step c);
- and
- e) detecting the detector oligonucleotide by mass spectrometry, wherein detection of the detector oligonucleotide indicates the presence of the target nucleic acid sequence in the biological sample.
A method for detecting a target nucleic acid sequence in a nucleic acid molecule in a sample, comprising the steps of:
- a) hybridizing a first oligonucleotide to nucleic acid that contains the target nucleic acid;
- b) hybridizing a second oligonucleotide to an adjacent region of the target nucleic acid;
- and
- c) detecting hybridized first oligonucleotide by mass spectrometry as an indication of the presence of the target nucleic acid.
A method for detecting a nucleic acid sequence, comprising the steps of:
- a) isolating a target nucleic acid;
- b) hybridizing an oligonucleotide to the target nucleic acid;
- and
- c) detecting hybridized oligonucleotide by mass spectrometry as an indication of the presence of the target nucleic acid.
A method for detecting a nucleic acid sequence in a target nucleic acid molecule, comprising the steps of:
- a) isolating a target nucleic acid;
- b) hybridizing a first oligonucleotide to the target nucleic acid and hybridizing a second oligonucleotide to an adjacent region of the target nucleic acid;
- c) detecting a portion of the first oligonucleotide by mass spectrometry as an indication of the presence of the target nucleic acid.
A method for detecting a nucleic acid sequence in a nucleic acid molecule in a sample, comprising the steps of:
- a) isolating a nucleic acid;
- b) hybridizing a first oligonucleotide to the target nucleic acid and hybridizing a second oligonucleotide to an adjacent region of the target nucleic acid;
- c) contacting the hybridized first and second oligonucleotides with a cleavage enzyme to form a cleavage product;
- and
- d) detecting the cleavage product by mass spectrometry as an indication of the presence of the target nucleic acid.
Dependencies are inferred from the claim text.