Flashcards in Pharmacogenetics Deck (13):
Drug polymorphism where there are alterations in target molecule is known as ______ polymorphism.
What polymorphism is: usually due to alterations in drug metabolizing enzymes more prevalent due to lower selection pressure.
Ways to detect pharmacogenetic traits: (2)
What type of genetic test can: detect all mutant alleles, are affected by epigenetic factors, and can change with time?
What type of genetic testing: only detects known mutant alleles easily done by sequencing?
Multiple defective alleles/haplotypes complicates _____ and limits ______.
____ distribution can vary substantially between diffferent racial/ethnic groups
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.
An extra copy of CYP 2D6 alleles causes _______ ______ in up to 7% of Caucasians. This can result in ____ ____ with standard drug doses.
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