Random Charts Flashcards
Steps @ which mutations occur example: Transcription
thalassemias, hereditary persistance of fetal Hb
Steps @ which mutations occur example: Translation
thalassemias
Steps @ which mutations occur example: Post translational modification
i-cell disease
Steps @ which mutations occur example: protein folding
hemoglobinopathies
Steps @ which mutations occur example: Monomer–>holomer
all types of osteogenesis imperfecta
Steps @ which mutations occur example: Localization of protein
hypercholesterolemia
Steps @ which mutations occur example: cofactor binding to the holoenzyme
homocystineuria
Steps @ which mutations occur example: function of a correctly folded, assembled, and localized protein produced in normal amounts
HbKempsey
If your patient has a G6PD deficiency, what should you NEVER give them?
antimalarial drugs: sulfonamides, dapsone
If your patient has acute intermittent porphyria, what drugs should be avoided?
barbituates
If a patient has galactosemia, how should it be treated?
eliminate galactose from diet
Treatment for hypothyroidism?
thyroxine replacement
Treatment for biotindase deficiency?
replace biotin
Treatment for urea cycle deficiency
sodium benzoate
Treatments for a heterozygous person with hypercholesterolemia?
oral resins (diversion) and statins (inhibition)
Treatment for a homozygous person with hypercholesterolemia?
LDL aphresis
What does CYP3A metabolize?
cyclosporine
What does CTP2D6 metabolize?
tricyclic antidepressants and codeine–>morphine
What does CYP2C9 metabolize?
warfarin
What does NAT metabolize
isoniazid
What does TMPT metabolize?
6 mercaptopurine and 6 thioguanine
What does G6PD metabolize
Antimalaria drugs: sulfonamide, dapsone
What does VKORC1 metabolize?
warfarin
What inhibits CYP3A?
ketoconazole and grapefruit juice
What induces CYP3A?
Rifampin
What inhibits CYP2D6?
Quinidine, Fluoxetine, Paroxetine
What is isoniazid used to treat?
TB
What should you NEVER give to kiddos with ALL?
6 mercaptopurine, 6 thioguanine
What kind of enzyme is G6PD?
x linked
What are the advantages of RNA retroviruses?
integrate into cell’s genome with minimal host immune reaction
What are the disadvantages of an RNA retrovirus?
- limited to 7-8kb
- infects only dividing cells, does nothing to non-dividing cells
Advantages of DNA viruses
- wide variety
- size: 35-36kb
- stable and easy to get high titers
Disadvantage of DNA virus
- Does not integrate into cell genome
- expression is transient
- malignant transformation
Non viral gene therapy (liposome, direct DNA) advantages:
- very large insertion size
- can deliver mini chromosomes
- minimal host response
Non viral gene therapy disadvantages:
- low efficiency
- transient expression
