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Flashcards in Exam 2 Biochem Deck (12)
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1
Q

Cystic fibrosis protein

A

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

2
Q

Cystic fibrosis mutation

A

most commonly F508 deletion

at nuclear binding domain 1 of protein

3
Q

Dx of cystic fibrosis

A
PCR anaylsis (parent comparison)
ASO hydridization
4
Q

Alpha-1-antitrypsin

A

serine protease inhibitor
made by macrophages and hepatocytes
protects against elastase

5
Q

Absence of A1AT

A

emphysema from elastin degradation
increased with smoking
liver disease more severe

6
Q

A1AT deficiency

A

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

7
Q

ZZ homozygous for A1AT

A

liver disease
aggregates in rER
cirrhosis develops

8
Q

A1AT deficiency genetics

A

S causes E264V, decreased stability of protein

Z causes E342K, accumulation in liver

9
Q

A1AT Pittsbury variant

A

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

10
Q

Screening CF for newborns

A

immunoreactive trypsinogen

11
Q

CF bacteria

A

pseudomonas
S. aureus
causes bronchiectasis

12
Q

Tx for cystic fibrosis

A

antibiotics
pancreatic enzymes + fat soluble vitamins
aerosol to loosen mucus