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0001 STEP ONE RAPID REVIEW DX > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

amanita phalloides - death cap mushroom - toxin - alpha-amanitin - causes death via?

A

inhibition of RNA polymerase - hepatotoxic

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2
Q

Does poly A-polymerase require a template?

A

No! recognizes AAUAAA polyadenylation signal

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3
Q

What are P bodies

A

these function as quality control of mRNA in the cytoplasm
they have the following function
exonuclease
decapping (7-methyl guanosine cap)
and micro-RNAs
mRNA can also be stored in them for future use?

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4
Q

what is anti-smith?

A

anti snRNP antibody highly specific for lupus

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5
Q

what is anti-U1 RNP

A

anti snRNP antibody found in mixed connective tissue disease (MCTD)

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6
Q

3’ end of tRNA

A

CCA - can carry aminos :)

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7
Q

Nissle bodies

A

RER in neurons that synthesize NTs for release

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8
Q

who is rich in RER

A

Goblet cells - mucin

plasma cells - ab

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9
Q

who is rich in SmoothER

A

Steroid producing cells - adrenal cortex / gonads

detoxifying (drugs and poisons) - hepatocytes

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10
Q

COP-I

A

retrograde

cis golgi to ER

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11
Q

COP-II

A

anterograde

ER to cis golgi

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12
Q

Clathrin

A

trans golgi -to lysosome
or
endocytosis to lysosome (receptor mediated endo - e.g. LDL)

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13
Q

If we stain for vimentin, what are we looking for?

A

connective tissue

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14
Q

if we stain for desmin what are we looking fot?

A

muscle

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15
Q

if we stain for cytokeratin, what are we looking for?

A

epithelial

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16
Q

if we stain for neurofilaments what are we looking for?

A

neurons

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17
Q

if we stain for GFAP what are we looking for?

A

neuroglia

glial fibrillary acid protein

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18
Q

kinesin -

A

anterograde to microtubule

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19
Q

dynein

A

retrograde to microtubule

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20
Q

5 drugs that act on microtubules?

A 
mebendazole (antihelminthe)
griseofulvin (antifungal)
colchicine (antigout)
vincristine (anticancer) / vinblastine
paclitaxel (anticancer)
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21
Q

Menkes disease

A

X linked
copper absorption error from Menkes protein (ATP7A)
copper necessary cofactor of lysyl oxidase in collagen triple helix crosslinking –> brittle hair / growth retardation / hypotonia

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22
Q

Loss of heterozygosity - disease example

A

Retinoblastoma - if a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. this is not true of oncogenes

23
Q

McCune Albright syndrome is an example of

A 
mosaicism - confers survivability 
mutation effect g-protein signaling 
unilateral cafe o lait
polyostotic fibrous dysplasia 
precocious puberty
multiple endocrine abnormalities
24
Q

locus heterogeneity

A

different loci can produce similar phenotype - albinism

25
Q

allelic heterogeneity

A

different mutations in the same loci produce same phenotype - beta thalassemia

26
Q

what could you think of (other than infidelity) if someone is manifesting a autosomal recessive trait if only one parent is a carrier?

A

uniparental disomy

27
Q

example of x-linked dominant disorder

A

hypophosphatemic rickets -

wasting of phosphate of PCT

28
Q

Li Fraumeni

A

p53
SBLA
Sarcoma; Breast; Leukemia; Adrenal

29
Q

effect on aorta in marfan

A

cystic media necrosis

30
Q

MEN1

A

MEN gene
pancreas
parathyroid
pituitary

31
Q

MEN2a

A

RET
Thyroid (medullary)
Phen
Parathyroid

32
Q

MEN2b

A

RET
Thyroid (medullary)
Phen
Marfanoid

33
Q

what is randomly associated with risk of thymoma?

A

myasthenia gravis

34
Q

which cancer is lambert eaton associated wtih

A

small cell lung

35
Q

endrophonium test?

A

AChE inhibitor test for Myasthenia gravis vs. Lambert Eaton

MG should improve

36
Q

cool way to test for thiamine deficiency

A

RBC increase in transketolase activity post thiamine administration

37
Q

CFTR gene location

A

7

38
Q

why do males with CF have infertility

A

absent vas deferens

39
Q

what is given to CF patients to loosen mucus plugs

A

N-acetylcysteine - cleaves disulfide bonds

40
Q

what is myotonic dystrophy?

A 
autosomal dominant mutation CTG trinucleotide repeat expansion in DMPK gene leads to abnormal expression of myotonin protein kinase, this leads to:
myotonia
muscle wasting 
cataracts
testicular atrophy
frontal balding
arrhythmia
my toupe my ticker my testicles myotonia!
41
Q

Fragile x

A 
X linked 
trinucleotide repeat CCG
FMR1 gene 
Extra large testes, jaws, ears
intellectual 
mitral valve prolapse
42
Q

Friedrich ataxia! did you know what kind of mutation this is?

A

trinucleotide repeat expansion - i did not know this!

43
Q

Down syndrome common cardiac anomaly

A

ASD

44
Q

First trimester screen US

down syndrome findings (2) and serum findings (2)

A

nuchal translucency
hypoplastic nasal bone

PAPP-A down
free beta-hCG up

45
Q

Second trimester down syndrome screening (quad)

A

AFP down
b-hCG up
estriol - down
inhibin A up

AFP and estriol down
b-HCG and inhibinA up

46
Q

when looking at differences in the prenatal screen of trisomy 21 vs 18
whats different?

A 
In Edwards everything is down 
first trimester 
PAPP down bHCG down 
second trimester
inhibinA down AFP down bHCG down estriol down 
contrast with Downs
first trimester
bHCG is up 
second trimester
bHCG and inhibinA up
47
Q

Patau findings (13x3)

A 
holoprosencephaly (one hemisphere)
micropthalmia 
cleft lip/palate
polydactyly 
heart
cutis aplasia
48
Q

trinucleotide repeat disorders

A

huntingtons - cag (4)
friedrich ataxia - cgg (9)
myotonic dystrophy - ctg (19)
fragile x - gaa

49
Q

antidote for methanol or ethylene glycol poisoning

A

fomepizole - Alochol dehydrogenase inhibitor

50
Q

ant-abuse

A

disulfram - inhibits acetylaldehide dehydrogenase

51
Q

Due to defective myelin synthesis, deficiency in this vitamin can lead to subacute combined degeneration?

A

Usually vitamin B12
but can also be E
(DC / LCS / SC)

52
Q

What is elevated in B12 deficiency ?

A

The substrates of the enzymes it is cofactor for…
Homocysteine (needed to convert methionine)
Methylmalonic acid (needed to convert methylmalonyl-CoA to Succinyl-CoA -used in TCA and myelin synthesis)

53
Q

ursodeoxycholic acid

A

bile salt

0001 STEP ONE RAPID REVIEW DX (25 decks)

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