Pharmacogenetics

Question 2

Drug polymorphism where there are alterations in target molecule is known as ______ polymorphism.

Answer 2

pharmacodynamic

Question 3

What polymorphism is: usually due to alterations in drug metabolizing enzymes more prevalent due to lower selection pressure.

Answer 3

pharmacokinetic

Question 4

Ways to detect pharmacogenetic traits: (2)

Answer 4

phenotyping

genotyping

Question 5

What type of genetic test can: detect all mutant alleles, are affected by epigenetic factors, and can change with time?

Answer 5

phenotyping

Question 6

What type of genetic testing: only detects known mutant alleles easily done by sequencing?

Answer 6

genotyping

Question 7

Multiple defective alleles/haplotypes complicates _____ and limits ______.

Answer 7

genotyping

predictability

Question 8

____ distribution can vary substantially between diffferent racial/ethnic groups

Answer 8

Alleles

Question 9

This polymorphism results in: Affects a wide diversity of drugs Increased or prolonged response with most drugs

Answer 9

CYP 2D6 polymorphism

Question 10

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.

Answer 10

CYP 2D6

Question 11

An extra copy of CYP 2D6 alleles causes _______ ______ in up to 7% of Caucasians. This can result in ____ ____ with standard drug doses.

Answer 11

ultrarapid metabolism

therapeutic failure

Question 12

This polymorphism results in the inactivation of succinylcholine.

Answer 12

pseudocholinesterase, or serum cholinesterase

Question 13

Mutations in _____ _____ _ are the most common cause of malignant hyperthermia

Answer 13

Ryanodine Receptor I

Question 14

What factors can affect drug metabolism? (8)

Answer 14

age	
hormones
metabolism
diet	
smoking 	
herbal supplements	
disease
alcohol