Quarter 2, Biochemistry, Test 2, Cystic Fibrosis

Front 1

what is the most common single gene letahl disorder among caucasians

Back 1

cystic fibrosis

Front 2

how is cystic fibrosis inherited

Back 2

autosomal recessive

Front 3

what organ systems are effected in cystic fibrosis

Back 3

lung, exocrine pancreas, GI, sweat glands, reproductive system

Front 4

if a patient has a family history of cystic fibrosis, what else must be analyzed to confirm CF

Back 4

increased sweat electrolyte concentrations

Front 5

what is the primary defect in cystic fibrosis

Back 5

defective cloride channel of epithelial cells of affected organs

Front 6

sweat glands contain ___ epithelial cells in the coil and ___ cells in the duct

Back 6

secretory/absorptive

Front 7

what part of the sweat gland lacks cystic fibrosis transmembrane conductane regulators that is usually a sign of CF

Back 7

ductal absorptive cells

Front 8

according to the high salt theory involving airway epithelia of CF, a greater than normal concentration of NaCl would lead to

Back 8

ingibition of natural antimicrobial activity in lung

Front 9

according to the low volume theory of CF, chloride is absorbed by non-CFTR mechanisms and the sodium channel is hyperactive leading to...

Back 9

dehydration of lung secretion

Front 10

in the exocrine pancrease what happens to the pancreas

Back 10

occlusion of ducts

Front 11

if a child is born with CF, there maybe problems with the small intestine due to...

Back 11

inability to pass meconium (intestinal blockage in first day or two of life)

Front 12

what is thought to cause infertility in CF patients

Back 12

thick secretions

Front 13

CFTR is a unique member of what transport protein family

Back 13

ATP Binding Cassette

Front 14

what must happen to the regulatory domain of CFTR channel

Back 14

it must be phosphorylated

Front 15

if ATP binds to NBD1 the channel will ____, but if it binds to NBD2 the channel will ____.

Back 15

open/close

Front 16

a single mutation in the CFTR gene will cause CF (most commonly), this is known as delta F508, but what amino acid is not present

Back 16

Phenylalanine

Front 17

a defective protein production of CFTR is known as...

Back 17

Class I mutation

Front 18

a defective protein processing of CFTR is known as...

Back 18

Class II mutation

Front 19

defective regulation of CFTR is known as a...

Back 19

Class III mutation

Front 20

defective conductance of the CFTR is known as...

Back 20

Class IV mutation

Front 21

Reduced levels of "normal" CFTR is known as...

Back 21

Class V mutation

Front 22

what effect does aerosolized rhDNAse have on a patient with CF

Back 22

reduces DNA from lysed bacteria and WBC's in lung

Front 23

what is the name of the drug that can overcome Type I mutations which involve premature stop codons

Back 23

Gentamicin

Front 24

what drug helps to overcome Type II mutations by binding to the deltaF508 CFTR and allowing it to be more efficiently tranported to the plasma membrane

Back 24

CPX

Front 25

what drug interferes with the normal chaperones which target deltaF508 for destruction, allowing more of it to be expressed at the plasma membrane

Back 25

Curcumin

Front 26

what drug improves expression of CFTR by decreasing expression of some protein trafficking genes

Back 26

phenylbutyrate

Front 27

what can be given to increase cloride conductance by deltaF508 CFTR

Back 27

milrinone

Front 28

what drug increases chloride channel activity by CFTR

Back 28

genistein

Front 29

what drug, presently in clinical trials, inhibits EnaC and stimulates calcium dependent chloride channels in lung

Back 29

P2Y2

Front 30

gene thrapy is thought to be most prmising by using what type of vector

Back 30

liposomes