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Cystic fibrosis transmembrane conductance regulator gene mutations

  • US 9,410,203 B2
  • Filed: 06/13/2014
  • Issued: 08/09/2016
  • Est. Priority Date: 12/22/2006
  • Status: Active Grant
First Claim
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1. A method of detecting a CFTR mutation, comprising:

  • (a) contacting a biological sample comprising a CFTR nucleic acid obtained from a human with a detectably labeled nucleic acid probe that specifically hybridizes to a mutant CFTR nucleic acid comprising a 4177delG deletion mutation, if present, but not to a wild-type CFTR nucleic acid, wherein the detectably labeled nucleic acid probe comprises a sequence of 8-20 nucleotides that is fully complementary to a portion of the mutant CFTR nucleic acid and comprises the 4177delG mutation; and

    (b) detecting the CFTR 4177delG deletion mutation when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant CFTR nucleic acid.

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