DNA Diagnostics Based on Mass Spectrometry
AssigneeSequenom, Inc.
InventorsHubert Koster, Daniel P. Little, Andreas Braun, David M. Lough, Guobing Xiang, Dirk van den Boom, Christian Jurinke, Andreas Ruppert
Life of this patent
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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.
Claims37
1-103. (canceled)
A process for characterizing the structure of one or more target nucleic acids from a biological sample, comprising:
- a) determining the base composition of at least one nucleic acid molecule having a known sequence;
- b) amplifying one or more target nucleic acid molecules from a biological sample;
- c) ionizing and volatilizing the product of step b);
- d) analyzing a product of step c) by mass spectrometry to determine an observed molecular mass of said product of step c);
- e) obtaining a number of possible base compositions of said product of step c) from the observed molecular mass determined in step d);
- f) constraining the number of possible base compositions obtained in step e);
- and
- g) comparing at least one base composition obtained in step e) or at least one base composition constrained in step f) with the base composition determined in step a);
- whereby the structure of the one or more target nucleic acids is characterized based on the comparison of (g).
A process for characterizing the structure of one or more target nucleic acids from a biological sample, comprising:
- a) determining the base composition and molecular mass of at least one nucleic acid molecule having a known sequence;
- b) amplifying one or more target nucleic acid molecules from a biological sample;
- c) ionizing and volatilizing the product of step b);
- d) analyzing a product of step c) by mass spectrometry to determine an observed molecular mass for said product of step c);
- e) obtaining a number of possible base compositions of said product of step c) from the observed molecular mass determined in step d);
- f) constraining the number of possible base compositions obtained in step e);
- and
- g) comparing at least one base composition obtained in step e) with the base composition determined in step a), or comparing at least one base composition obtained in step f) with the base composition determined in step a), or comparing the observed molecular mass determined in step d) with the molecular mass determined in step a);
- whereby the structure of the one or more target nucleic acids is characterized based on the comparison of (g).
Dependencies are inferred from the claim text.