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Cystic fibrosis gene mutations

  • US 9,228,237 B2
  • Filed: 04/29/2013
  • Issued: 01/05/2016
  • Est. Priority Date: 03/05/2004
  • Status: Active Grant
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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