Monogenic disease Flashcards
1
Q
How is cystic fibrosis caused?
A
A mutation in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR)
2
Q
Where is the CFTR found?
A
In sweat and pancreatic ducts, gut, seminiferous tubules, lungs and many other tissues.
3
Q
What does an abnormal CFTR protein produce?
A
A thick dehydrated secretion in the lungs.
4
Q
What parts of the body does CF affect?
A
The lungs, gut, pancreas, over and reproductive tract.
