Unit 1- Pharmacogenetics

Question 1

Pharmacogenetics

Answer 1

Identifying genetics variations leading to interindividual differences in drug response

Question 2

Monogenetic

Answer 2

Single gene response to a particular drug

Question 3

Pharmacogenomics

Answer 3

Entire spectrum of genes determining response to a particular drug

Question 4

Individualization of drug therapy

Answer 4

Predicts drug toxicity, identify most beneficial drugs

Question 5

Gene

Answer 5

DNA sequence containing codons for a protein

Question 6

Silent Mutation

Answer 6

Results in a base change that creates a codon for the same amino acid

Question 7

Mutation

Answer 7

Results in a different amino acid or stop codon, changing protein structure and function

Question 8

Polymorphisms

Answer 8

Variations of a gene within the population

Question 9

MDR1 Defect Dogs

Answer 9

Deletion in the MDR1 gene causing shortening of the P-glycoprotein

Question 10

P-glycoprotein

Answer 10

Transmembrane protein, ATP-dependent carrier that pumps drugs out of the cell and functions in many body barriers

Question 11

Intact P-glycoprotein

Answer 11

Limits drug entry, promotes drug elimination, restricts drug penetration across blood-brain barrier

Question 12

Defective P-glycoprotein

Answer 12

Increased drug absorption, reduced elimination, increased permeation of blood-tissue barriers

Question 13

Cytochrome P450s

Answer 13

Heme-containing proteins at the membrane of the ER that catalyze phase I metabolism

Question 14

CYP1A2 Deficiency

Answer 14

Nonsense mutation causes a shortened protein without heme-binding group, poor metabolizers and drugs become concentrated in blood

Question 15

CYP2B11 Deficiency

Answer 15

Increased bioavailability and toxicity of certain drugs

Question 16

CYP2D15 Deficiency

Answer 16

Change in enzymatic activity causes reduced metabolization rate

Question 17

N-acetyltransferase Genes

Answer 17

Absent in dogs, increases the risk of drugs metabolized by N-acetyltransferase enzyme