The Molecular, Biochemical, and Cellular Basis of Genetic Disease Part II

Question 1

As a result of AIP, what happens to the cellular levels of heme, and what else occurs?

Answer 1

cellular levels of heme fall, reducing the feedback inhibition of heme on delta-amino-levulinic acid synthethase, which causes a secondary increase in the synthetase levels

Question 2

What is the rate limiting enzyme for the cholesterol synthetic pathway?

Answer 2

HMG CoA reductase

Question 3

an enzyme that reesterfies the free intracellular cholesterol for storage as cholesterol esters

Answer 3

ACAT (acyl coenzyme A:cholesterol acyltransferase)

Question 4

What chromosome is the LDL receptor gene on?

Answer 4

chromosome 19

Question 5

What is the major cause of chronic pulmonary infection in CF?

Answer 5

Psuodonas aeruginosa

Question 6

What are the 2 possible deletions seen in deltaF508?

Answer 6

TCT or CTT, replacing the Ile codon with ATT, and deleting the Phe codon

Question 7

What role does dystrophin play in muscle?

Answer 7

dystrophin is a structural protein that links the extracellular matrix (laminin) to the actin cytoskeleton