Diseases Associated With Defects In Protein Structure Flashcards
1
Q
Inherited disease that affects breathing, digestion, reproduction
A
Cystic Fibrosis (CF)
2
Q
CFTR gene
A
Cystic fibrosis transmembrane regulator
3
Q
Recessive mutation
A
CFTR gene
4
Q
___________ in the plasma membrane of the epithelial cells.
A
Chloride channels
5
Q
Deficiency in chloride transport creates______________.
A
Osmotic problems
6
Q
Too much chlorine inside of cells——>
A
- Water gets into cell
- mucus thickens
7
Q
Most severe mutation is _____________ of amino acid _____________.
A
Deletion
508-Phenylalanine
