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0001 STEP ONE RAPID REVIEW DX > Biochemistry > Flashcards

Biochemistry Flashcards

(53 cards)

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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

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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

Study These Flashcards
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

Study These Flashcards
A

different loci can produce similar phenotype - albinism

25
allelic heterogeneity
different mutations in the same loci produce same phenotype - beta thalassemia
26
what could you think of (other than infidelity) if someone is manifesting a autosomal recessive trait if only one parent is a carrier?
uniparental disomy
27
example of x-linked dominant disorder
hypophosphatemic rickets - | wasting of phosphate of PCT
28
Li Fraumeni
p53 SBLA Sarcoma; Breast; Leukemia; Adrenal
29
effect on aorta in marfan
cystic media necrosis
30
MEN1
MEN gene pancreas parathyroid pituitary
31
MEN2a
RET Thyroid (medullary) Phen Parathyroid
32
MEN2b
RET Thyroid (medullary) Phen Marfanoid
33
what is randomly associated with risk of thymoma?
myasthenia gravis
34
which cancer is lambert eaton associated wtih
small cell lung
35
endrophonium test?
AChE inhibitor test for Myasthenia gravis vs. Lambert Eaton | MG should improve
36
cool way to test for thiamine deficiency
RBC increase in transketolase activity post thiamine administration
37
CFTR gene location
7
38
why do males with CF have infertility
absent vas deferens
39
what is given to CF patients to loosen mucus plugs
N-acetylcysteine - cleaves disulfide bonds
40
what is myotonic dystrophy?
``` 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
Fragile x
``` X linked trinucleotide repeat CCG FMR1 gene Extra large testes, jaws, ears intellectual mitral valve prolapse ```
42
Friedrich ataxia! did you know what kind of mutation this is?
trinucleotide repeat expansion - i did not know this!
43
Down syndrome common cardiac anomaly
ASD
44
First trimester screen US | down syndrome findings (2) and serum findings (2)
nuchal translucency hypoplastic nasal bone PAPP-A down free beta-hCG up
45
Second trimester down syndrome screening (quad)
AFP down b-hCG up estriol - down inhibin A up AFP and estriol down b-HCG and inhibinA up
46
when looking at differences in the prenatal screen of trisomy 21 vs 18 whats different?
``` 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
Patau findings (13x3)
``` holoprosencephaly (one hemisphere) micropthalmia cleft lip/palate polydactyly heart cutis aplasia ```
48
trinucleotide repeat disorders
huntingtons - cag (4) friedrich ataxia - cgg (9) myotonic dystrophy - ctg (19) fragile x - gaa
49
antidote for methanol or ethylene glycol poisoning
fomepizole - Alochol dehydrogenase inhibitor
50
ant-abuse
disulfram - inhibits acetylaldehide dehydrogenase
51
Due to defective myelin synthesis, deficiency in this vitamin can lead to subacute combined degeneration?
Usually vitamin B12 but can also be E (DC / LCS / SC)
52
What is elevated in B12 deficiency ?
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
ursodeoxycholic acid
bile salt

0001 STEP ONE RAPID REVIEW DX (25 decks)

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