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Pathology > Pharma + Genetics > Flashcards

Pharma + Genetics Flashcards

1
Q

Zidovudine

A

Depletes muscle mitochondiral DNA

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2
Q

Tumour suppressor genes diseases

A

NF-1, BRCA1 and 2 in familial breast/ovarian cancer
FPC, familial retinoblastoma, familial melanoma, hereditary multiple exostoses, tuberous sclerosis, Von Hippel-Lindau syndrome.

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3
Q

Xeroderma pigmentosum

A

Autosomal resessive

Defect in NUCELOTIDE EXCISION REPAIR

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4
Q

X-linked dominant

A

Aicardi syndrome
incontinentia pigmentii
Alport’s syndrome (in 5% of cases)

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5
Q

HOX

A

REtinoic acid in pregnancy

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6
Q

FMR-1

A

Fragile-X sybdrine

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7
Q

PAX-3

A

Kelin-Waardenburg

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8
Q

Rb

A

Tumour suppressor

Inhibits E2F trasncription factor (pushes cells into synthesis phase)

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9
Q

Bcl-2

A

Proto-oncogene

Prevent release of cytochrome c (apoptotic pathway)

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10
Q

PAX-6

A

Aniridia Chr 11 0 autosomal dominant

can be a part of Gillespie syndrome - AR

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11
Q

Epinephrine effect on IOP

A

Causes reduced IOP

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12
Q

Myotonic dystrophy

A

Chromosome 19

AD

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13
Q

Which class can cross the BBB?

A

alpha blockers

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14
Q

Cocaine

A

Decreased noradrenaline reuptake

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15
Q

MDMA

A

Increased release of monoamine neurotransmitters (including noradrenaline),
inhibition of serotonin reuptake

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16
Q

Amphetamine

A

Increased noradrenaline release

17
Q

BCL-2

A

inhibitor of apoptosis

18
Q

Sturge Weber

A

GNAQ sporadix mutation

19
Q

NF-1

NF-2

A

Chr 17q

Chr 22 Merlin gene

20
Q

VHL

A

Chr 3p

21
Q

What percentage of retinitis pigmentoria is genetic?

A

20-25%

22
Q

Best’s disease

A

VMD2

23
Q

Autosomal recessive RP

A

USH2A

24
Q

Atropine S/Es

A 
delayed gastric emptying
reduced sweating
sedation when administered systemically
cycloplegia via ciliary body paralysis
mydriasis via iris sphincter muscle paralysis
25
Q

Lyonisation diseases

A 
Choroideremia
X-linked ocular albinism
X-linked RP
Lowe syndrome
Fabry diseases.
26
Q

CHARGE syndrome

A

CHD7

Coloboma, Heart disease, Atresia choanae, Retardation of growth

Pathology (8 decks)

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