Biochem: molecular/cellular bio, genetics Flashcards Preview

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Flashcards in Biochem: molecular/cellular bio, genetics Deck (73):
1

uracil is made from deamination of

cytosine

2

cytosine deamination yields

uracil

3

leflunomide MOA

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

4

hydroxyurea MOA

inhibits ribonucleotide reductase to prevent conversion of UDP to dUDP

5

substances from glutamine + CO2 to synthesis of CTP

carbamoyl phosphate, orotic acid, UMP, UDP, CTP

6

substances from glutamine + CO2 to synthesis of dTMP

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

7

MTX, TMP, and pyrimethamine block

dihydrofolate reductase, which normally recycles DHF into THF

8

5FU blocks

thymidylate synthase, which normally converts dUMP to dTMP
Note: the active form of 5FU is 5FdUMP

9

azathioprine/6MP MOA

impairs purine synthesis by blocking formation of IMP from PRPP

10

Mycophenolate and ribavirin MOA

blocks IMP dehydrogenase to prevent conversion of IMP to GMP

11

probenecid MOA

stimulates conversionof uric acid to urine

12

Lesch-Nyhan (deficiency, symptoms)

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

13

this sugar unbinds the repressor on lac operon

high lactose

14

XP is caused by a defect in

NER, which removes oligonucleotides e.g. pyrimidine dimers

15

Spontaneous deamination is repaired by

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

16

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

NHEJ

17

function of eukaryotic RNA pol I

rRNA

18

function of eukaryotic RNA pol II

mRNA

19

function of eukaryotic RNA pol III

tRNA

20

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

ribosome binding; aminoacyl-tRNA synthase recognition

21

Defect in I-cell disease

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

22

Sx of I-cell disease

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

23

this protein is involved in retrograde vesicular trafficking

COP I

24

this protein is involved in anterograde vesicular trafficking

COP II

25

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

Clathrin

26

stain for mesenchymal intermediate filaments

vimentin

27

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

kinesin

28

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

dynein

29

ouabin MOA

inhibits Na/K ATPase by binding to K+ site

30

classical Ehlers-Danlos is a deficiency in this collagen

type V

31

Menkes (deficiency, consequence, sx)

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

McCune-Albright syndrome (def, manifestations)

mutation in G-protein signaling. Survivable only if mosaic
Unilateral cafe-au-lait, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

33

which gene is mutated/deleted in Prader-Willi

paternal gene defect
(with maternal imprinting)

34

which gene is mutated/deleted in AngelMan

maternal gene defect
(with paternal imprinting)

35

inheritance type Osler-Weber-Rendu

AD

36

chr for Huntington

chr 4
"Hunting 4 CAGs"

37

chr for AD PKD

MCC PKD1 on chr 16. PKD1 on chr 4

38

chr for Marfan

FBN1 on chr 15

39

chr for NF1

aka von Recklinghausen disease. chr 17

40

chr for NF2

chr 22

41

chr for VHL

chr 3

42

chr for CF

chr 7. often deletion of Phe508

43

Inheritance ornithine transcarbamylase deficiency

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

44

inheritance Fabry disease

XR. The one sphingolipidosis that isn't AR
("Oblivious Female Will Often Give Her Boys Her x-Linked Disorders")

45

inheritance WAS

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

46

inheritance ocular albinism

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

47

inheritance G6PD def

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

48

inheritance hereditary spherocytosis

AD

49

inheritance mucopolysaccharidoses (except Hunter)

AR

50

inheritance Wilson disease

AR

51

inheritance thalassemias

AR

52

inheritance glycogen storage diseases

AR

53

inheritance Kartagener

AR

54

inheritance myotonic dystrophy type 1

AD

55

manifestations of myotonic dystrophy type 1

testicular atrophy, frontal balding, arrhythmia
("My Testicles, My Toupee, My Ticker")

56

repeat for Fragile X

CGG

57

repeat for Friedreich Ataxia

GAA

58

repeat for Huntington

CAG

59

repeat for myotonic dystrophy

CTG

60

lab findings down syndrome

1st trimester: low PAPP-A, high b-hCG
2nd: HIGH b-hCG, low AFP, HIGH inhibin A, low estriol

61

lab findings Edwards

(trisomy 18)
low PAPP-A, LOW b-hCG, low AFP, low/normal inhibin A

62

lab findings Patau

(trisomy 13)
low PAPP-A, LOW b-hCG

63

chr for FAP

5

64

chr for cri-du-chat

5

65

chr for HFE

6

66

chr for Williams

7, long arm deletion

67

chr for Friedreich Ataxia

9

68

chr for Wilms tumor

11

69

chr for beta globin gene

11

70

chr for RB1

13

71

chr for BRCA2

13

72

chr for alpha globin

16

73

chr for BRCA1

17