Exam 2 Biochem

Question 1

Cystic fibrosis protein

Answer 1

CFTR
functions as Cl- channel
ABC family of membrane binding proteins

Question 2

Cystic fibrosis mutation

Answer 2

most commonly F508 deletion

at nuclear binding domain 1 of protein

Question 3

Dx of cystic fibrosis

Answer 3

PCR anaylsis (parent comparison)
ASO hydridization

Question 4

Alpha-1-antitrypsin

Answer 4

serine protease inhibitor
made by macrophages and hepatocytes
protects against elastase

Question 5

Absence of A1AT

Answer 5

emphysema from elastin degradation
increased with smoking
liver disease more severe

Question 6

A1AT deficiency

Answer 6

autosomal recessive
increased in caucasians
S and Z mutant alleles cause disease

Question 7

ZZ homozygous for A1AT

Answer 7

liver disease
aggregates in rER
cirrhosis develops

Question 8

A1AT deficiency genetics

Answer 8

S causes E264V, decreased stability of protein

Z causes E342K, accumulation in liver

Question 9

A1AT Pittsbury variant

Answer 9

pt mutation M358R
bleeding disorder
increased thrombin affinity, decreased elastase affinity

Question 10

Screening CF for newborns

Answer 10

immunoreactive trypsinogen

Question 11

CF bacteria

Answer 11

pseudomonas
S. aureus
causes bronchiectasis

Question 12

Tx for cystic fibrosis

Answer 12

antibiotics
pancreatic enzymes + fat soluble vitamins
aerosol to loosen mucus