Cystic fibrosis gene mutations
First Claim
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1. A method of detecting a mutant cystic fibrosis transmembrane (CFTR) nucleic acid in an individual, comprising:
- (a) contacting a biological sample comprising a CFTR nucleic acid from an individual with a detectably labeled nucleic acid probe that specifically hybridizes to a mutant CFTR nucleic acid comprising the mutation but not to a wildtype CFTR nucleic acid; and
the probe comprises the substitution mutation; and
(b) detecting the CFTR substitution mutation in the individual when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant CFTR nucleic acid, wherein the mutation is c.3017C>
A.
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Abstract
The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.
21 Citations
7 Claims
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1. A method of detecting a mutant cystic fibrosis transmembrane (CFTR) nucleic acid in an individual, comprising:
- (a) contacting a biological sample comprising a CFTR nucleic acid from an individual with a detectably labeled nucleic acid probe that specifically hybridizes to a mutant CFTR nucleic acid comprising the mutation but not to a wildtype CFTR nucleic acid; and
the probe comprises the substitution mutation; and
(b) detecting the CFTR substitution mutation in the individual when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant CFTR nucleic acid, wherein the mutation is c.3017C>
A. - View Dependent Claims (2, 3, 4, 5, 6, 7)
- (a) contacting a biological sample comprising a CFTR nucleic acid from an individual with a detectably labeled nucleic acid probe that specifically hybridizes to a mutant CFTR nucleic acid comprising the mutation but not to a wildtype CFTR nucleic acid; and
Specification
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Current AssigneeQuest Diagnostics Investments Incorporated (Quest Diagnostics Incorporated)
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Original AssigneeQuest Diagnostics Investments Incorporated (Quest Diagnostics Incorporated)
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InventorsMcGinniss, Matthew J., Buller, Arlene M., Quan, Franklin, Peng, Mei, Sun, Weimin
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Primary Examiner(s)GOLDBERG, JEANINE ANNE
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Application NumberUS14/956,745Publication NumberTime in Patent Office741 DaysField of SearchNoneUS Class CurrentCPC Class CodesC12Q 1/6883 for diseases caused by alte...C12Q 2600/156 Polymorphic or mutational m...Y10T 436/143333 Saccharide [e.g., DNA, etc.]
