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Pharmacogenomics Def
Exam 2 definitions
| Question | Answer |
|---|---|
| Transporter | A protein embedded in a cell membrane responsible for either removing substances from a cell or bringing them into the cell or membrane vesicle within the cell |
| Single nucleotide polymorphism (SNP) | A point mutation occurring in >1% of the population |
| Syncytiotrophoblast | multinucleated cells in the placenta that contain transport proteins serving a protective function for the fetus |
| Enterocyte | cells lining the intestine that contain transport proteins with protective roles |
| Synonymous mutation | the substitution of a nucleotide within a gene that does not result in a change in an amino acid in the expressed protein |
| Nonsynonymous | nucleotide substitution in a gene that results in a change in the amino acid sequence of a protein |
| Missense mutation | a polymorphism that results in a different amino acid being expressed in a protein |
| Nonsense mutation | a polymorphism that results in a premature stop codon |
| Linkage disequilibrium | a nonrandom association of alleles, causing a certain combination to occur more or less frequently than otherwise expected |
| Promoter region | Regulates gene transcription |
| Intron | between exons and does not code for proteins |
| Exon | used for coding proteins |
| Allele | one of a pair of genes on a specific location of a chromosome that control the same trait |
| Pharmacodynamics | the study of how a drug exerts its effects in the body |
| Pharmacogenetics | the study of inherited differences or variations in drug metabolism and response |
| Pharmacogenomics | the study of the role of inheritance in individual variation in drug response. It refers to the general study of all of the many different genes that determine drug behavior |
| Pharmacokinetics | a study of absorption, distribution, metabolism, and excretion of drugs (ADME) |
| Point mutation | a change in a single nucleotide of the genome that occurs in 1% or less of the population |
| Polymorphism | the presence of two or more alleles for a gene or DNA sequence in a population |
| Deletion | is a type of mutation involving the loss of genetic material. It can be small, involving a single missing DNA base pair, or large |
| Frameshift | An insertion or deletion involving a number of base pairs that is not a multiple of three and consequently disrupts the triplet reading frame |
| Insertion | mutant A type of mutation in which an extra base pair is inserted and shifts the sequence out of phase by one pair; also called a frame shift. |
| Biomarker | A biochemical feature or facet that can be used to measure the progress of disease or the effects of treatment |
| Efflux | is a mechanism responsible for extrusion of toxic substances and antibiotics outside the cell |
| Polygenic | of or relating to an inheritable character that is controlled by several genes at once; of or related to or determined by polygenes |
| Autonomy | involves the right of individuals to do as they wish or to choose their own path |
| Beneficence | is to do good for or to prevent harm to an individual |
| Ethics | is the process of thoughtfully considering and evaluating choices that individuals make |
| Justice | involves rights that individuals have, as well as fair and equitable treatment |
| Non-malfeasance | means to avoid doing harm or evil to another individual |
| Orphan drug | is a pharmaceutical agent that has been developed specifically to treat a rare medical condition |
| Genotype | is the genetic constitution of a cell, an organism, or an individual (i.e. the specific allele makeup of the individual) usually with reference to a specific character under consideration. |
| Phenotype | what an organism looks like as a consequence of the interaction of its genotype and the environment |
| Antimicrobial pharmacokinetics | a study of absorption, distribution, metabolism, and excretion of antimicrobial drugs |
| Antimicrobial pharmacodynamics | the study of how antimicrobial drugs exert their effects on target organisms |
| Pharmacokinetic variability | the variability observed in drug absorption, distribution, metabolism, and excretion between different individuals |
| Virulence | the capacity of a microorganism to cause disease |
| Minimum inhibitory concentration (MIC) | lowest concentration of an antimicrobial that will inhibit the visible growth of a microorganism |
| Innate immunity | the human bodies non-specific first line of defense against invasion by foreign organisms |
| Xenobiotic | natural substances that are foreign to the body |
Created by:
LJungRx
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