DNA diagnostics based on mass spectrometry
First Claim
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1. A process for determining the order of base specifically terminated nucleic acid fragments of a target nucleic acid molecule, comprising the steps of:
- a. obtaining a nucleic acid molecule, comprising the target nucleic acid sequence and, at one end, a tag;
b. generating base specifically terminated nucleic acid fragments from the target nucleic acid; and
c. analyzing the fragments by a mass spectrometry format, thereby determining the order of the base specifically terminated nucleic acid fragments in the target nucleic acid molecule.
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Abstract
Fast and highly accurate mass spectrometry-based processes for detecting a particular nucleic acid sequence in a biological sample are provided. Depending on the sequence to be detected, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.
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17 Claims
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1. A process for determining the order of base specifically terminated nucleic acid fragments of a target nucleic acid molecule, comprising the steps of:
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a. obtaining a nucleic acid molecule, comprising the target nucleic acid sequence and, at one end, a tag; b. generating base specifically terminated nucleic acid fragments from the target nucleic acid; and c. analyzing the fragments by a mass spectrometry format, thereby determining the order of the base specifically terminated nucleic acid fragments in the target nucleic acid molecule. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17)
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Specification