10 Questions
What is the primary role of the CFTR protein?
Act as a chloride ion channel
Which chromosome is the gene for the protein CFTR located on?
Chromosome 7
What is the mutation known as that accounts for approximately 70% of all mutations in CFTR?
Delta508
What type of inheritance does Cystic Fibrosis (CF) exhibit?
Autosomal recessive
How do mutations influence the function of the CFTR protein product?
Preventing it from reaching the epithelial membrane
What is the specific mutation responsible for approximately 70% of all mutations in the CFTR gene?
ΔF508 mutation
How do mutations influence the function of the CFTR protein product?
Causing a complete or partial reduction in its synthesis
What type of inheritance does Cystic Fibrosis (CF) exhibit?
Autosomal recessive inheritance
What is the primary role of the CFTR protein?
Act as a chloride ion channel
Why do ΔF508 homozygotes almost always have the severe classical CF?
The CFTR protein doesn't form and is degraded while forming its secondary structure
Test your knowledge on the genetic basis of cystic fibrosis with this quiz. Learn about the mutation in the CFTR gene and its impact on protein function.
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