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BOARDS > biochem random > Flashcards

biochem random Flashcards

1
Q

is heterochromatin or euchromatin transcriptionally active?

A

euchromatin

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2
Q

histone acetylation does what to DNA? active or inactive?

A

makes it ACTIVE by relaxing DNA coiling

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3
Q

AA required for purine synthesis

A

Glycine, Aspartate, Glutamine

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4
Q

rate limiting enzyme of pyrimidine synthesis

A

carbamoyl phosphate synthetase II

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5
Q

what is a prodrug of 6MP used to inhibit de novo purine syntesis

A

azathioprine

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6
Q

what drug inhibits ribonucleotide reductase?

A

hydroxyurea

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7
Q

what drug inhibits thymidylate synthase?

A

5-FU

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8
Q

primase makes a _____primer on which DNA polymerase____ can initiate replication

A

RNA primer; DNA polymerase III

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9
Q

which DNA polymerase has 5-3’ exonuclease?

A

DNA polymerase I

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10
Q

telomerase is a RNA-dependent DNA polymerase that adds DNA to which end of chromosome? why?

A

3’ end; to prevent loss of genetic material

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11
Q

sickle cell results from what type of DNA mutation?

A

missense mutation

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12
Q

what type of DNA repair results in double stranded breaks?

A

nonhomologous end joining

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13
Q

what dz is d/t defective nonhomologous end joining

A

ataxia telangiectasia

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14
Q

mutation of helicase, defective DNA replication and repair, presents w/ immunodeficiency, incr sensitivity to UV light, incr susceptibility to cancer, infertiility

A

Bloom syndrome

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15
Q

which RNA polymerase makes each of the following?
rRNA
mRNA
tRNA

A

rRNA - poly 1
mRNA - poly2
tRNA - poly3

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16
Q

what are the 3 stop codons?

A

UGA, UAA, UAG

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17
Q

what must happen to RNA before it is transported out of the nucleus (3 things)

A
  1. 5’cap
  2. polyadenylation of 3’ end
  3. splicing out of introns
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18
Q

where does mRNA quality control occur?

A

cytoplasmic P bodies

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19
Q

aminoacyl tRNA synthetase works at what end?

A

3’ end

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20
Q

one gene contributes to multiple phenotypic efffects

A

pleiotropy

ie. PKU

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21
Q

mutations at different loci can produce a similar phenotype

A

locus heterogeneity

ie. albinism

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22
Q

prader willi and angelman syndromes are d/t deletion of genes on what chromosome

A

chromosome 15

23
Q

what normally inhibits G1 ro S phase progression

A

p53

hypophosphorylated Rb

24
Q

RER in neurons is called what?

A

nissl bodies

25
Q

what types of cells are rich in smooth ER?

A

liver hepatocytes, adrenal cortex, gonads

26
Q

coarse facial features, clouded cornea, restricted joint movement, high plasma levels of lysosomal enzymes

A

I cell disease

deficiency mannose 6P on GP

27
Q

accumulation of very long chain FA in tissue; inability to form myelin

A

zellweger syndrome, d/t defect in peroxisomes

28
Q

vimentin is a structural component of______

A

connective tissue

29
Q

nuclear lamins are a structural component of______

A

nuclear envelope and DNA within

30
Q

defect in procollagen peptidase

A

ehlers danlos (issue with croslinking to make collagen fibrils)

31
Q

defect in glycosylation of collagen, not enough collagen type 1

A

osteogenesis imperfecta

32
Q

CT dz caused by impaired Cu absorption and transport, decr activity of lysyl oxidase; presents with brittle, kinky hair, hypotonia

A

Menkes disease

33
Q

defect in fibrillin

A

Marfan

34
Q

sites of gluconeogenesis

A

liver
kidney
intestinal epithelium

35
Q

what is released to signal need to break down glycogen?

A
  1. glucagon

2. epinephrine

36
Q

cardiomyopathy, hyporeflexia, progressive muscle weakness, defect in lysosomal alpha 1,4 glucosidase

A

Pompe disease

37
Q

defective debranching enzyme (alpha 1,6 glucosidase)

A

Cori disease (more mild form of Von Gierke dz)

38
Q

which dz can be supplemented with high intake of ketogenic nutrients (lysine and leucine)

A

PDH complex deficiency

39
Q

neuro defects, lactic acidosis, incr serum alanine starting in infancy

A

PDH complex deficiency

40
Q

which B vitamins are req’d to make PDH complex or alpha KGDH complex?

A

B1, B2, B3, B5

41
Q

what are the 2 main nitrogen transporters in teh blood

A
  1. alanine

2. glutamine

42
Q

what are 3 ETC uncoupling agents

A
  1. ASA
  2. 2,4 DNP
  3. thermogenin
43
Q

skin lesions, edema, fatty liver, anemia, depigmented skin and hair

A

kwashiorkor (protein malnutrition)

44
Q

primary nrg source of a person who has not eaten in 2 days

A

FA

45
Q

x linked recessive, incr orotic acid in blood/urine, hyperammonia, decr BUN - defect in?

A

ornithine transcarbamylase deficiency

46
Q

intellectual disability, osteoporosis, tall stature, kyphosis, lens subluxation, thrombosis, atherosclerosis, marfanoid habitus

A

homocystinuria

47
Q

hereditary defect of renal PCT and aa transporter for COLA (cysteine, ornithine, lysine, arginine)

A

cystinuria

tx: urinary alkanization

48
Q

MSUD is d/t deficiency in what?

A

branched chain alpha KGD complex

49
Q

which vitamin excess can lead to incr ICP?

A

vitamin A

50
Q

dehydrogenase rxns require what vitamin? component of FAD and FMN also

A

vitamin B2 (riboflavin)

51
Q

which vitamin is a constituent of NAD and NADP

A

vitamin B3 (niacin)

52
Q

a patient presents with convulsions and irritabiltiy - what vitamin deficiency is indicated?

A

vitamin B6

53
Q

used by pyr dehydrogenase and alpha KG dehydrogenase

A

vitamin B1

54
Q

deficiency that can be cause by isonizid use

A

B6 (pyridoxine)

B3 (niacin)

BOARDS (20 decks)

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