Cystic fibrosis gene mutations
First Claim
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1. A method of detecting a deletion 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 deletion mutation but not to a wild-type CFTR nucleic acid; and
the probe comprises the deletion mutation; and
(b) detecting the CFTR deletion mutation in the individual when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant CFTR nucleic acid,wherein the deletion mutation is selected from the group consisting of c.2817—
2821del and c. 1066—
1071 del.
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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.
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5 Claims
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1. A method of detecting a deletion mutant cystic fibrosis transmembrane (CFTR) nucleic acid in an individual, comprising:
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(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 deletion mutation but not to a wild-type CFTR nucleic acid; and
the probe comprises the deletion mutation; and(b) detecting the CFTR deletion mutation in the individual when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant CFTR nucleic acid, wherein the deletion mutation is selected from the group consisting of c.2817—
2821del and c. 1066—
1071 del. - View Dependent Claims (2, 3, 4, 5)
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Specification