DNA diagnostics based on mass spectrometry
First Claim
Patent Images
1. A process for detecting the presence of a target nucleic acid sequence in a biological sample, comprising the steps of:
- a) performing on a nucleic acid molecule comprising a target nucleic acid sequence, a first polymerase chain reaction comprising a first forward primer and a first reverse primer, which can amplify a portion of the nucleic acid molecule comprising at least a portion of the target nucleic acid sequence, thereby producing a first amplification product;
b) performing on the first amplification product, a second polymerase chain reaction comprising a second forward primer and a second reverse primer, which can amplify at least a portion of the first amplification product comprising at least a portion of the target nucleic acid sequence, thereby producing a second amplification product; and
c) detecting the amplification product by mass spectrometry, thereby detecting the presence of the target nucleic acid sequence in the biological sample.
3 Assignments
0 Petitions
Accused Products
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.
228 Citations
45 Claims
-
1. A process for detecting the presence of a target nucleic acid sequence in a biological sample, comprising the steps of:
-
a) performing on a nucleic acid molecule comprising a target nucleic acid sequence, a first polymerase chain reaction comprising a first forward primer and a first reverse primer, which can amplify a portion of the nucleic acid molecule comprising at least a portion of the target nucleic acid sequence, thereby producing a first amplification product;
b) performing on the first amplification product, a second polymerase chain reaction comprising a second forward primer and a second reverse primer, which can amplify at least a portion of the first amplification product comprising at least a portion of the target nucleic acid sequence, thereby producing a second amplification product; and
c) detecting the amplification product by mass spectrometry, thereby detecting the presence of the target nucleic acid sequence in the biological sample. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22)
-
-
23. A process for detecting target nucleic acid sequences present in a plurality of nucleic acid molecules, comprising the steps of:
-
a) performing on nucleic acid molecules in the plurality, a first polymerase chain reaction comprising first primer pairs comprising a plurality of first forward primers and a plurality of first reverse primers, wherein a first primer pair can amplify a portion of a nucleic acid molecule comprising at least a portion of a target nucleic acid sequence, thereby producing first amplification products;
b) performing on the first amplification products, a second polymerase chain reaction comprising second primer pairs comprising a plurality of second forward primers and a plurality of second reverse primers, wherein a second primer pair can amplify at least a portion of a first amplification product comprising at least a portion of the target nucleic acid sequence, thereby producing second amplification products; and
c) detecting the amplification products by mass spectrometry, thereby detecting target nucleic acid sequences present in the plurality of nucleic acid molecules. - View Dependent Claims (24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45)
-
Specification