Cystic fibrosis

Question 1

Mutation types

Answer 1

Substitution
Insertion
Inversion
Deletion
Duplication

Question 2

Mutation def

Answer 2

permanent changes in dna of organism
Changes arrangement of bases
Changes primary structure of protein

Question 3

Mutation causing cf

Answer 3

mutation of gene coding for CFTR protein

Question 4

CFTR protein

Answer 4

channel protein transporting chloride ions out of cells in respiratory tract into mucus

Question 5

Effect of CFTR mutation

Answer 5

mucus thickens as protein is less efficient at transporting chloride ions
Water does not move into mucus by osmosis

Question 6

Effect of sticky mucus

Answer 6

causes problems in gas exchange
Reproduction and digestion

Question 7

Effect on resp system

Answer 7

Mucus build up traps bacteria
Increase risk of infection
Decreases SA of alveoli-reducing SA for gas exchange

Question 8

Reproductive system

Answer 8

Cervical mucus prevents sperm reaching egg
Sperm duct blocked
Sperm unable to leave testes

Question 9

digestive system

Answer 9

Pancreatic duct blocked with mucus
Digestive enzymes don’t reach SI
Food not properly digested
-Nutrients not fully absorbed
mucus lining in duddenum reducing absorption of nutrients
may cause cysts to form in pancreas
- damages insulin producing cells ( may lead to diabetes)