ugh meds, conditions, morphagens, coenzymes

Question 1

TPP (thiamine pyrophosphate)

Answer 1

oxidative decarboylation, transfers aldehyde group

Question 2

CoA-SH

Answer 2

acyl transfer

Question 3

PLP (pyridoxal phosphate)

Answer 3

transamination, deamination , decarboxylation

Question 4

tetrahydrofolate

Answer 4

transfers carbons

Question 5

FAD/NAD

Answer 5

redox

Question 6

morphagen examples

Answer 6

gradients

TGF B
BMPs bone morphagen proteins
hedgehot series
wingless related intergration site

Question 7

antibiotics and topoisomerase

antibiotic resistence

Answer 7

antibiotic target topisomerase stop ligation which causes cell death

point mutations lead to antibiotic resistance

Question 8

topotecan

Answer 8

used in chemo

stabilizes topo-1-DNA, prevents religation, no replication

Question 9

AZT

Answer 9

nucleoside analog
used in HIV
it inhibits chain enlogation

Question 10

gancyclovir

Answer 10

nucleoside anaolog

Question 11

Adefovir

Answer 11

used for hepatitis

nucleotide analog

Question 12

5-flurouracil

Answer 12

base analog

inhibit TS which converts dTMP to dTTP

Question 13

competitive inhibitors

Answer 13

statins
methotrexate
salicylate COX

Question 14

noncompetitive inhibitors

Answer 14

cyanide
DJNK 1
nifedipine

Question 15

uncompetitive (mixed)

Answer 15

pepstatin
trypsin inhibitor
ethanol

Question 16

irreversible inhibitor

Answer 16

aspirin

Question 17

problems with BER

Answer 17

werner’s syndrome

Question 18

problems wit MSH2 and MSH1

Answer 18

lynch syndrome

colon cancers

Question 19

problems with homologous repair

Answer 19

BRCA1/2

Question 20

fribrillin mutation and elastin disease

Answer 20

marfan

Question 21

smoking causes a defect in this inflammation protector

Answer 21

alpha 1 antitrypsin

Question 22

collagen issue, can’t remove N/C term or cross-link, stretchy skin

Answer 22

EDS

Question 23

in collagen gly is replaced with bulky side chains,

also an ex of haploinsuffiency (mild)

Answer 23

osteogenesis imperfecta

Question 24

disruption in alpha helices and b sheets, bad protein folding

Answer 24

prion disease

Question 25

plyQ expression CAG (gly) causes cell death

Answer 25

huntington's disease

Question 26

ERCC6/8 mutation

Answer 26

cockayne syndrome

Question 27

defect in double strand break repair

Answer 27

bloom syndrome

Question 28

suspect consanguinity in

Answer 28

rare AR diseases

Question 29

examples of incomplete penetrance

Answer 29

huntington's retinoblastoma

Question 30

examples of varied expressivity

Answer 30

marfan, CF, polycystic kidney disease

Question 31

examples of delayed age of onset

Answer 31

huntington's, hereditary cancers

Question 32

examples pleitropy

Answer 32

marfan, CF

Question 33

examples of locus hetrogeneity

Answer 33

retinits pigmentosa, BRCA

Question 34

commonly new mutation not heritary

Answer 34

achondroplasia