Pharmacogenetics Flashcards
How many chromosome does a human have?
46 in total
2 sex chromosome
22 pairs of autosomal chromosomes
How many haploid DNA base pairs does a human have?
3 billion
How many diploid DNA base pairs does a human have?
6 billion
Explain genotype vs phenotype
Genotype = organism's genetic makeup that includes all alleles situated on homologous chromosomes Phenotype = observable characteristics of an organism resulting from the interaction of its genotype with the environment
Define pharmacogenetics
The study of variability in drug response due to heredity
Name the steps in phase I metabolism
Oxidation
Hydroxylation
Reduction
Hydrolysis
What is phase II metabolism?
Conjugation
Which drugs are metabolised by n-acetyltransferase?
Isoniazid Sulfonamids Procainamide Hydralazine Caffeine
Name the two functions of the CYP250 system
- Formation of cholesterol, steroids and arachidonic acid metabolites
- Metabolism and detoxification of xenobiotics
Which CYP450 gene metabolizes the majority of drugs?
CYP3A4/5 > CYP2D6 > CYP2C8/9
Which CYP450 gene metabolizes TCAs, SSRIs and antipsychotics?
CYP2D6
Which CYP450 gene metabolizes codeine?
CYP2D6 -> morphine
Which CYP450 gene metabolizes tramadol?
CYP2D6 -> O-desmethyltramadol (higher affinity for u opioid receptor)
Which CYP450 gene metabolizes proton pump inhibitors?
CYP2C19
Which CYP450 gene metabolizes proguanil?
CYP2C19 -> cycloguanil