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First Aid > Biochem: molecular/cellular bio, genetics > Flashcards

Biochem: molecular/cellular bio, genetics Flashcards

1
Q

uracil is made from deamination of

A

cytosine

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2
Q

cytosine deamination yields

A

uracil

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3
Q

leflunomide MOA

A

blocks dihydroorotate dehydrogenase to prevent conversion of carbamoyl phosphate to orotic acid

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4
Q

hydroxyurea MOA

A

inhibits ribonucleotide reductase to prevent conversion of UDP to dUDP

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5
Q

substances from glutamine + CO2 to synthesis of CTP

A

carbamoyl phosphate, orotic acid, UMP, UDP, CTP

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6
Q

substances from glutamine + CO2 to synthesis of dTMP

A

carbamoyl phosphate, orotic acid, UMP, UDP, dUDP, dUMP, dTMP

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7
Q

MTX, TMP, and pyrimethamine block

A

dihydrofolate reductase, which normally recycles DHF into THF

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8
Q

5FU blocks

A

thymidylate synthase, which normally converts dUMP to dTMP

Note: the active form of 5FU is 5FdUMP

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9
Q

azathioprine/6MP MOA

A

impairs purine synthesis by blocking formation of IMP from PRPP

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10
Q

Mycophenolate and ribavirin MOA

A

blocks IMP dehydrogenase to prevent conversion of IMP to GMP

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11
Q

probenecid MOA

A

stimulates conversionof uric acid to urine

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12
Q

Lesch-Nyhan (deficiency, symptoms)

A

HGPRT: hyperuicemia, gout, pissed off, retardation, dystonia

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13
Q

this sugar unbinds the repressor on lac operon

A

high lactose

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14
Q

XP is caused by a defect in

A

NER, which removes oligonucleotides e.g. pyrimidine dimers

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15
Q

Spontaneous deamination is repaired by

A

BER. AP endonuclease cleaves 5’ end, lyase cleaves 3’ end

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16
Q

Ataxia telangiectasia and Fanconi anemia have a defect in this DNA repair mechanism

A

NHEJ

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17
Q

function of eukaryotic RNA pol I

A

rRNA

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18
Q

function of eukaryotic RNA pol II

A

mRNA

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19
Q

function of eukaryotic RNA pol III

A

tRNA

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20
Q

what are the functions of the T arm and D arm of tRNA?

A

ribosome binding; aminoacyl-tRNA synthase recognition

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21
Q

Defect in I-cell disease

A

failure to add mannose-6-P (defect in n-acetylglucosaminyl-1-phosphotransferase)

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22
Q

Sx of I-cell disease

A

coarse facies, clouded corneas, restricted joint movement, high plasma level of lysosomal enzymes

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23
Q

this protein is involved in retrograde vesicular trafficking

A

COP I

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24
Q

this protein is involved in anterograde vesicular trafficking

A

COP II

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25
Q

this protein is involved in transport between Golgi and lysosomes, and in receptor mediated endocytosis

A

Clathrin

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26
Q

stain for mesenchymal intermediate filaments

A

vimentin

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27
Q

this microtuble motor protein does anterograde transport (toward positive end)

A

kinesin

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28
Q

this microtubule motor protein does retrograde transport (toward negative end)

A

dynein

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29
Q

ouabin MOA

A

inhibits Na/K ATPase by binding to K+ site

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30
Q

classical Ehlers-Danlos is a deficiency in this collagen

A

type V

31
Q

Menkes (deficiency, consequence, sx)

A 
defective ATP7A (Menkes protein), which absorbs and transports copper
Problems with cross-linking tropocollagen into collagen (copper needed for lysl oxidase)
Sx: brittle, kinky hair; growth retardation; hypotonia
32
Q

McCune-Albright syndrome (def, manifestations)

A

mutation in G-protein signaling. Survivable only if mosaic

Unilateral cafe-au-lait, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

33
Q

which gene is mutated/deleted in Prader-Willi

A

paternal gene defect

with maternal imprinting

34
Q

which gene is mutated/deleted in AngelMan

A

maternal gene defect

with paternal imprinting

35
Q

inheritance type Osler-Weber-Rendu

A

AD

36
Q

chr for Huntington

A

chr 4

“Hunting 4 CAGs”

37
Q

chr for AD PKD

A

MCC PKD1 on chr 16. PKD1 on chr 4

38
Q

chr for Marfan

A

FBN1 on chr 15

39
Q

chr for NF1

A

aka von Recklinghausen disease. chr 17

40
Q

chr for NF2

A

chr 22

41
Q

chr for VHL

A

chr 3

42
Q

chr for CF

A

chr 7. often deletion of Phe508

43
Q

Inheritance ornithine transcarbamylase deficiency

A

XR

“Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”

44
Q

inheritance Fabry disease

A

XR. The one sphingolipidosis that isn’t AR

“Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”

45
Q

inheritance WAS

A

XR (“Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”)

46
Q

inheritance ocular albinism

A

XR (“Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”)

47
Q

inheritance G6PD def

A

XR (“Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”)

48
Q

inheritance hereditary spherocytosis

A

AD

49
Q

inheritance mucopolysaccharidoses (except Hunter)

A

AR

50
Q

inheritance Wilson disease

A

AR

51
Q

inheritance thalassemias

A

AR

52
Q

inheritance glycogen storage diseases

A

AR

53
Q

inheritance Kartagener

A

AR

54
Q

inheritance myotonic dystrophy type 1

A

AD

55
Q

manifestations of myotonic dystrophy type 1

A

testicular atrophy, frontal balding, arrhythmia

“My Testicles, My Toupee, My Ticker”

56
Q

repeat for Fragile X

A

CGG

57
Q

repeat for Friedreich Ataxia

A

GAA

58
Q

repeat for Huntington

A

CAG

59
Q

repeat for myotonic dystrophy

A

CTG

60
Q

lab findings down syndrome

A

1st trimester: low PAPP-A, high b-hCG

2nd: HIGH b-hCG, low AFP, HIGH inhibin A, low estriol

61
Q

lab findings Edwards

A

(trisomy 18)

low PAPP-A, LOW b-hCG, low AFP, low/normal inhibin A

62
Q

lab findings Patau

A

(trisomy 13)

low PAPP-A, LOW b-hCG

63
Q

chr for FAP

A

5

64
Q

chr for cri-du-chat

A

5

65
Q

chr for HFE

A

6

66
Q

chr for Williams

A

7, long arm deletion

67
Q

chr for Friedreich Ataxia

A

9

68
Q

chr for Wilms tumor

A

11

69
Q

chr for beta globin gene

A

11

70
Q

chr for RB1

A

13

71
Q

chr for BRCA2

A

13

72
Q

chr for alpha globin

A

16

73
Q

chr for BRCA1

A

17

First Aid (18 decks)

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