Chapter 19- Table 19.2

Question 1

What is the gene product CFTR

Answer 1

CFTR

Question 2

What is the pancreatic result of a mutation in the CFTR gene

Answer 2

Epithelial anion channel, so there is a decrease in the bicarbonate secretion, thickening of secreted fluids and duct obstruction

Question 3

What is the type of mutation in the CFTR gene

Answer 3

Loss of function

Question 4

What is the type of mutation in the PRSS1 gene

Answer 4

Gain of function

Question 5

What is the type of mutation in the SPINK1 gene

Answer 5

Loss of function

Question 6

What is the result of a mutation in the PRSS1 gene

Answer 6

Cationic trypsin, so results in the prevention of trypsin self inactivation

Question 7

What is the result of a mutation in the CASR gene

Answer 7

Receptor in the level of calcium, so alterations in calcium levels with active trypsin

Question 8

What is the result of a mutation in the SPINK1 gene

Answer 8

Inhibitors of trypsin, so results in increased trypsin activity

Question 9

What is the result of a mutation in the CTRC

Answer 9

Degrades trypsin, so results in increased levels of trypsin activity

Question 10

What is the result of a mutation in the CPA1 gene

Answer 10

Exopeptidase the regulates zymogen activity, so results in overactivation

Question 11

What is the gene product of PRSS1 and its function

Answer 11

Serine protease 1 (aka trypsinogen) that prevents activation of trypsin

Question 12

What is the gene product of SPINK1 and its function

Answer 12

Serine peptidase inhibitor 1, which inhibits trypsin

Question 13

What is the gene product of CASR and its function

Answer 13

Calcium sensor of extracellular levels

Question 14

What is the gene product of CTRC and its function

Answer 14

Chymotrypsin C, high degrades trypsin

Question 15

What is the gene product of Carboxypeptidase and its function

Answer 15

Regulates zymogen activity