Drug polymorphism where there are alterations in target molecule is known as ______ polymorphism.
pharmacodynamic
What polymorphism is:
- usually due to alterations in drug metabolizing enzymes
- more prevalent due to lower selection pressure.
pharmacokinetic
Ways to detect pharmacogenetic traits: (2)
phenotyping
genotyping
What type of genetic test can:
- detect all mutant alleles
- are affected by epigenetic factors and can change with time?
phenotyping
What type of genetic testing:
- only detects known mutant alleles
- easily done by sequencing?
genotyping
Multiple defective alleles/haplotypes complicates _____ and limits ______.
genotyping
predictability
____ distribution can vary substantially between diffferent racial/ethnic groups
Alleles
This polymorphism results in:
- Affects a wide diversity of drugs
- Increased or prolonged response with most drugs
CYP 2D6 polymorphism
This polymorphism results in:
- a large number of mutant (defective alleles)
- is an autosomal recessive inheritance
- 10% of Caucasians and 1% Asians
Note: An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
CYP 2D6
An extra copy of CYP 2D6 alleles causes _______ ______ in up to 7% of Caucasians.
This can result in ____ ____ with standard drug doses.
ultrarapid metabolism
therapeutic failure
This polymorphism results in the inactivation of succinylcholine.
pseudocholinesterase, or serum cholinesterase
Mutations in _____ _____ _ are the most common cause of malignant hyperthermia
Ryanodine Receptor I
What factors can affect drug metabolism? (8)
- age
- hormones
- metabolism
- diet
- smoking
- herbal supplements
- disease
- alcohol
