Understanding the Cause of Cystic Fibrosis
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Questions and Answers

What is the primary role of the CFTR protein?

  • Act as a potassium ion channel
  • Act as a sodium ion channel
  • Act as a calcium ion channel
  • Act as a chloride ion channel (correct)
  • Which chromosome is the gene for the protein CFTR located on?

  • Chromosome 5
  • Chromosome 10
  • Chromosome 7 (correct)
  • Chromosome 13
  • What is the mutation known as that accounts for approximately 70% of all mutations in CFTR?

  • Alpha508
  • Beta508
  • Delta508 (correct)
  • Gamma508
  • What type of inheritance does Cystic Fibrosis (CF) exhibit?

    <p>Autosomal recessive</p> Signup and view all the answers

    How do mutations influence the function of the CFTR protein product?

    <p>Preventing it from reaching the epithelial membrane</p> Signup and view all the answers

    What is the specific mutation responsible for approximately 70% of all mutations in the CFTR gene?

    <p>ΔF508 mutation</p> Signup and view all the answers

    How do mutations influence the function of the CFTR protein product?

    <p>Causing a complete or partial reduction in its synthesis</p> Signup and view all the answers

    What type of inheritance does Cystic Fibrosis (CF) exhibit?

    <p>Autosomal recessive inheritance</p> Signup and view all the answers

    What is the primary role of the CFTR protein?

    <p>Act as a chloride ion channel</p> Signup and view all the answers

    Why do ΔF508 homozygotes almost always have the severe classical CF?

    <p>The CFTR protein doesn't form and is degraded while forming its secondary structure</p> Signup and view all the answers

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