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Pharmacogenomics
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MTHFR Gene Mutation
Mutations in the MTHFR gene can affect the metabolism of folate and drugs like methotrexate, influencing their efficacy and the risk of toxicity.
PGx Testing
Pharmacogenomic testing looks at genetic variations to predict an individual's response to specific medications, aiming to personalize drug therapy.
Pharmacokinetics
The study of how an individual's genetic makeup influences the absorption, distribution, metabolism, and excretion of drugs.
Personalized Medicine
An approach to disease treatment and prevention that takes into account individual differences in genes, including how these differences affect response to medications.
Drug Toxicity
Genetic variations can increase the risk of adverse drug reactions by affecting drug metabolism and clearance, potentially leading to drug toxicity.
HLA-B*57:01
A genetic variant associated with severe hypersensitivity reactions to the antiviral drug abacavir; testing for this variant is recommended before treatment.
BCR-ABL Kinase Mutation
A mutation associated with chronic myeloid leukemia (CML); certain tyrosine kinase inhibitors target this mutation, and resistance can develop through further mutations.
Drug Efficacy
Genetic factors can affect the pharmacodynamics and pharmacokinetics of drugs, thereby influencing how well a drug works for a particular individual.
Genetic Polymorphisms
Variations in DNA sequence that can impact drug response and safety, often by changing the function or expression of drug-metabolizing enzymes or receptors.
UGT1A1*28
A promoter polymorphism in the UGT1A1 gene that can lead to Gilbert syndrome and affect the metabolism of drugs like irinotecan, requiring dose adjustments.
Pharmacodynamics
The study of how genetic differences among individuals affect drug response at the target site, influencing efficacy and side effects.
TPMT Gene
This gene encodes thiopurine methyltransferase, an enzyme involved in the metabolism of thiopurine drugs; genetic variants can lead to toxicity if standard doses are used.
Cytochrome P450 Enzymes
A family of enzymes that play a crucial role in drug metabolism; genetic variations can lead to altered enzyme activity affecting drug efficacy and toxicity.
VKORC1 Gene
A gene that encodes an enzyme targeted by warfarin; genetic variations can determine the optimal dose of warfarin for anticoagulant therapy.
CYP2C9 and VKORC1 Genotypes
These genotypes are important for determining the appropriate dosing of warfarin, a blood thinner, to minimize the risk of bleeding or clotting.
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