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Med Gen Final
Med Gen SP26 Final
| Question | Answer |
|---|---|
| Point mutation - Missense | 1 base change resulting in different amino acid |
| Nonsense | 1 base change to a stop codon |
| Insertion | addition of nucleotides |
| Deletion | removal of nucletides |
| Frameshift | in/del of a number of nucleotides not equally divisible by 3 |
| Repeat expansion | insertion of excess short repeats (2-3 BP long) leading to additional repeats over generations (due to polymerase slippage) |
| Reciprocal translocation | flip flopping of chr regions between two chr - balanced |
| Loss of function | lack of production of a functional gene product - haplosufficient - recessive, haploinsufficient - dominant |
| Gain of function - | excessive or new function - dominant |
| Dominant negative - | mutant protein disrupts function of normal protein (usually in complexes) - dominant |
| What are common features of chromosomal disorders? | Distinct facial features Developmental delays Growth delays Congenital defects (heart defects) |
| What are common features of metabolic disorders? | Variable presentation Usually no phenotype until birth Presentation can occur from 1 day after birth -> adulthood May result in quick death |
| autosomal recessive example | sickle cell |
| repeat expansion example | huntingtons |
| autosomal dominant example | myotonic dystrophy |
| rett syndrome is | x-linked dominant |
| PK is what? | ADME, Absorption, Distribution, Metabolism, Elimination |
| PD is what? | MOA, Mechanism of Action |
| What the drug does to the body! | PD |
| What the body does to the drug! | PK |
| Potency | how much drug does it take to have an effect (half maximal) |
| Efficacy | maximal effect |
| PK PGx - metabolism or transport | oral medication ABC transporters in gut/liver/kidney increased resulting in less serum drug concentrations |
| PD PGx - the receptor/target is genetically different causing | increased/decreased expression or binding of the drug leading to decreased efficacy |
| First pass metabolism phase 1 | oxygenation reactions changing structure of drug molecule -> inactivity (little bit affecting hydrophilicity)(CYPs, DPYD) |
| First pass phase 2 | conjugation reactions transferring part of a cofactor molecule onto drug (can be at location of Phase 1 reaction)(SULTs, UGTs, TPMT, GSTs, NATs) (can affect activity, but more so hydrophilicity) |
| SLC | solute carriers - influx or efflux |
| ABC | ATP Binding Cassette - efflux |
| What is the rationale for PGx in general? | optimize dose and drug less trial and error, avoid ADRs |
| What is the rationale for PGx in Cardiovascular Disease? | efficacy because severe disease state, severe toxicities, potential for DDIs, combination therapy, common |
| What is the rationale for PGx in Neuro/Psych? | side effects, narrow therapeutic windows, increase adherence to drug, side effects can be common and or serious |
| Someone who does not like the side effects of a drug and therefore stops taking it has an issue with | adherence |
| With neuro/psych drugs, they start working very quickly, true or false? | false, neuro/psych drugs take weeks to show full clinical effect |
| ID drug that can cause jaundice | Atazanavir |
| What is the rationale for PGx in Oncology? | target pts based on genetic profiles and treat in the narrow therapeutic window |
| What is the rationale for PGx in infectious disease? | side effects -> nonadherence, serious disease states, severe (deadly) side effects, resistance of microorganism |
| Population characteristics important for PGx testing | ancestry, racial discrimination, primary disease state, aging population |
| What are the considerations for the PGx test itself? | gene variants, whole genome wide study of single gene test |
| What is taken into consideration when we are thinking about PGx test results? | who gets told and how much info is shared? Avoid ancillary information, patient portal or counseling |
| What is taken into account with prescribers and PGx testing? | alert fatigue and education |
| What is taken into considerations with cost of PGx testing? | socioeconomic status, insurance, copays, DTC costs |
| Warfarin is paired with the gene | |
| Clopidogrel is paired with the gene | |
| Statins are paired with the gene | |
| Beta blockers are paired with the gene | |
| Government divisions regulate genetic testing and PGx? CMS | CLIA certification, testing accuracy |
| Government divisions regulate genetic testing and PGx? FDA | drug label, drugs that have companion tests (her2 and traztuzumab), clinical trials are completed appropriately incorporating genetic tests, website for gene:drug pairs |
| Government divisions regulate genetic testing and PGx? FTC | commercial and marketing accuracy |
| Warfarin MOA | |
| Clopidogrel MOA | |
| Statins MOA | |
| Beta blockers MOA | |
| Autonomy versus beneficence | pt decision making vs doing what’s best for patient |
| Informed consent | Pt or parent/guardian are told of all the info before they make a decision |
| UM AS | anything above 2.25 |
| EN/NM AS | 1.25-2.25 |
| IM AS | 1-0.25 |
| PM AS | 0 |
Created by:
gpopop
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