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Cystic fibrosis transmembrane conductance regulator gene mutations

  • US 10,501,799 B2
  • Filed: 03/02/2018
  • Issued: 12/10/2019
  • Est. Priority Date: 12/22/2006
  • Status: Active Grant
First Claim
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1. A method of detecting a cystic fibrosis transmembrane regulatory (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 CFTR nucleic acid comprising a mutation, wherein the detectably labeled nucleic acid probe comprises a sequence of 8-20 nucleotides that is fully complementary to a portion of the CFTR nucleic acid that comprises the 4375-2A>

    G mutation; and

    (b) detecting the mutation when a hybrid is formed between the probe and the CFTR nucleic acid comprising the mutation.

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