DNA diagnostic based on mass spectrometry
AssigneeSequenom, Inc.
InventorHubert Koster
Life of this patent
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Abstract
The invention provides fast and highly accurate mass spectrometer based processes for detecting a particular nucleic acid sequence in a biological sample. Depending on the sequence to be detected, the processes can be used, for example, to diagnose (e.g. prenatally or postnatally) a genetic disease or chromosomal abnormality; a predisposition to a disease or condition (e.g. obesity, artherosclerosis, cancer), or infection by a pathogenic organism (e.g. virus, bacteria, parasite or fungus).
Claims45
A process for detecting a target nucleic acid sequence present in a biological sample, comprising the steps of:
- a) obtaining a nucleic acid molecule containing a target nucleic acid sequence from a biological sample;
- b) hybridizing a detector oligonucleotide with the target nucleic acid sequence, wherein at least one of the detector oligonucleotide or the target nucleic acid sequence has been conditioned;
- c) 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 process for detecting a target nucleic acid sequence present in a biological sample, comprising the steps of:
- a) obtaining a nucleic acid molecule containing a target nucleic acid sequence from a biological sample;
- b) amplifying the target nucleic acid sequence, thereby obtaining an amplified target nucleic acid sequence;
- c) hybridizing a detector oligonucleotide with the amplified target nucleic acid sequence, wherein at least one of the detector oligonucleotide or the amplified target nucleic acid sequence has been conditioned;
- d) removing unhybridized detector oligonucleotide;
- e) ionizing and volatizing the product of step c);
- and
- f) 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 process for detecting a target nucleic acid sequence present in a biological sample, comprising the steps of:
- a) obtaining a target nucleic acid sequence from a biological sample;
- b) amplifying and conditioning the target nucleic acid sequence, thereby producing amplified and conditioned nucleic acid molecules;
- c) digesting the amplified and conditioned nucleic acid molecules using at least one appropriate nucleases, thereby producing conditioned fragments;
- d) ionizing and volatizing the conditioned fragments;
- and
- e) detecting the conditioned fragments to determine the presence of the target nucleic acid sequence.
Dependencies are inferred from the claim text.