Pharma + Genetics Flashcards
Zidovudine
Depletes muscle mitochondiral DNA
Tumour suppressor genes diseases
NF-1, BRCA1 and 2 in familial breast/ovarian cancer
FPC, familial retinoblastoma, familial melanoma, hereditary multiple exostoses, tuberous sclerosis, Von Hippel-Lindau syndrome.
Xeroderma pigmentosum
Autosomal resessive
Defect in NUCELOTIDE EXCISION REPAIR
X-linked dominant
Aicardi syndrome
incontinentia pigmentii
Alport’s syndrome (in 5% of cases)
HOX
REtinoic acid in pregnancy
FMR-1
Fragile-X sybdrine
PAX-3
Kelin-Waardenburg
Rb
Tumour suppressor
Inhibits E2F trasncription factor (pushes cells into synthesis phase)
Bcl-2
Proto-oncogene
Prevent release of cytochrome c (apoptotic pathway)
PAX-6
Aniridia Chr 11 0 autosomal dominant
can be a part of Gillespie syndrome - AR
Epinephrine effect on IOP
Causes reduced IOP
Myotonic dystrophy
Chromosome 19
AD
Which class can cross the BBB?
alpha blockers
Cocaine
Decreased noradrenaline reuptake
MDMA
Increased release of monoamine neurotransmitters (including noradrenaline),
inhibition of serotonin reuptake
Amphetamine
Increased noradrenaline release
BCL-2
inhibitor of apoptosis
Sturge Weber
GNAQ sporadix mutation
NF-1
NF-2
Chr 17q
Chr 22 Merlin gene
VHL
Chr 3p
What percentage of retinitis pigmentoria is genetic?
20-25%
Best’s disease
VMD2
Autosomal recessive RP
USH2A
Atropine S/Es
delayed gastric emptying reduced sweating sedation when administered systemically cycloplegia via ciliary body paralysis mydriasis via iris sphincter muscle paralysis
Lyonisation diseases
Choroideremia X-linked ocular albinism X-linked RP Lowe syndrome Fabry diseases.
CHARGE syndrome
CHD7
Coloboma, Heart disease, Atresia choanae, Retardation of growth
