Cystic Fibrosis Flashcards
1
Q
What is cystic fibrosis
A
It is a genetically inherited disease that dramatically reduces life expectancy.
CF is a recessive characteristic
2
Q
What is the genetic defect in CF?
A
A mutation in the gene coding for a protein that acts as a chloride ion channel in epithelial cells
3
Q
What is the defective chloride channel protein called?
A
Cystic fibrosis transmembrane conductance regulator (CFTR)
