Mutations associated with cystic fibrosis
First Claim
Patent Images
1. A method comprising:
- detecting, using a plurality of labeled nucleic acid molecules that each comprise a fragment of a cystic fibrosis transmembrane conductance regulator gene and that specifically hydbridize to a mutant but not a wild-type cystic fibrosis transmembrane conductance regulator gene, wherein the labeled nucleic acid molecules each contain a cystic fibrosis transmembrane conductance regulator 2957delT mutation, and wherein the label comprises one of a radionucleotide, a fluorophore, a chemiluminescent agent, a microparticle, an enzyme, a colorimetric label, a magnetic label, a hapten, a molecular beacon, or an aptamer beacon, in a sample obtained from a human subject, the presence of a 2957delT mutation in a cycstic fibrosis transmembrane conductance regulator (CFTR) gene or protein.
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Abstract
The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.
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Citations
6 Claims
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1. A method comprising:
detecting, using a plurality of labeled nucleic acid molecules that each comprise a fragment of a cystic fibrosis transmembrane conductance regulator gene and that specifically hydbridize to a mutant but not a wild-type cystic fibrosis transmembrane conductance regulator gene, wherein the labeled nucleic acid molecules each contain a cystic fibrosis transmembrane conductance regulator 2957delT mutation, and wherein the label comprises one of a radionucleotide, a fluorophore, a chemiluminescent agent, a microparticle, an enzyme, a colorimetric label, a magnetic label, a hapten, a molecular beacon, or an aptamer beacon, in a sample obtained from a human subject, the presence of a 2957delT mutation in a cycstic fibrosis transmembrane conductance regulator (CFTR) gene or protein. - View Dependent Claims (2, 3, 4, 5)
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6. The method of claime 1, further comprising detecting one or more of a 4089insT, 4374+2T>
- C, 3064A>
T, or 246C>
G mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene or protein using a plurality of labeled nucleic acid molecules that each comprise a labeled nucleic acid molecule that comprises a fragment of a cystic fibrosis transmembrane conductance regulator gene and that specifically hybridizes to a mutant but not a wild-type cystic fibrosis transmembrane conductance regulator gene, wherein at least one of the labeled nucleic acid molecules contains a cystic fibrosis transmembrane conductance regulator 4089insT, 4374+2T>
C, 3064A>
T, or 246C>
G mutation, and wherein the label comprises one of a radionucleotide, a fluorophore, a chemiluminescent agent, a microparticle, an enzyme, a colorimetric lable, a magnetic label, a hapten, a molecular beacon, or an aptamer beacon.
- C, 3064A>
Specification
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Current AssigneeLaboratory Corporation Of America Holdings
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Original AssigneeLaboratory Corporation Of America Holdings
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InventorsRohlfs, Elizabeth, Sirko-Osadsa, Deborah Alexa, Rosenblum, Lynne, Nagan, Narasimhan, Zhou, Zhaoqing, Heim, Ruth
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Primary Examiner(s)Haney, Amanda
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Application NumberUS15/490,928Publication NumberTime in Patent Office699 DaysField of SearchNoneUS Class CurrentCPC Class CodesC12Q 1/6816 characterised by the detect...C12Q 1/6883 for diseases caused by alte...C12Q 2535/125 Allele specific primer exte...C12Q 2565/627 being a mass spectrometerC12Q 2600/112 Disease subtyping, staging ...C12Q 2600/156 Polymorphic or mutational m...C12Q 2600/16 Primer sets for multiplex a...G01N 2800/382 Cystic fibrosisG01N 33/6872 Intracellular protein regul...
