Introduction

Question 1

Define Pharmacology

Answer 1

Studies how drugs interact with cellular molecules

Question 2

Define Genetics/Genomics

Answer 2

The study of genes, heredity, and variation in living organism

Question 3

Define Pharmacogenetics

Answer 3

The study of the influence of individual genetic variations on the body’s response to drugs, including metabolism, therapeutic benefits and toxic reactions

Question 4

Impact of pharmacogenetics

Answer 4

Be able to tell if a drug is or isn’t going to work in a specific patient –> personalized medicine

Question 5

What are patient expectations?

Answer 5

Pharmacist are a source of healthcare information to the community
Expect pharmacists to know how drugs work and the factors that influence it
Expect pharmacists to keep abreast of technology and scientific developments

Question 6

What are physician expectations?

Answer 6

Pharmacist are a source of drug information for doctors
Expect pharmacists to correct doctor’s errors
To be a consult in terms of drug-drug interactions and generic alternatives
- Be responsible for using genetic information to select the drug and the best treatment

Question 7

PGx is possible because of?

Answer 7

Human Genome project

Advances in technology and computer technology and informatics

Question 8

Human genome

Answer 8

23 chromosomes

99.9% identical in all ppl

Question 9

How much of the genome code for proteins?

Answer 9

2%

Question 10

Define junk DNA

Answer 10

It used to be thought as being useless, but it has a purpose even though we don’t know what it is
50% of the genome

Question 11

Define chromosome

Answer 11

Linear sequence of genes on a strand of DNA

Question 12

Define locus

Answer 12

The position of an allele on a chromsome

Question 13

Define allele

Answer 13

A variant of a gene

Question 14

Define genotype

Answer 14

Genes associated with a trait

Question 15

Define phenotype

Answer 15

Observable expression of the genotype

Question 16

Central dogma

Answer 16

DNA –Transcriptions–> mRNA –Translation–> Protein

Question 17

Define SNPS

Answer 17

single point mutation (substitution)

<1% lead to functional change in protein

Question 18

Which mutation will affect the patient most clinically?

Answer 18

Non-sense mutation (early stop codon)

Question 19

Example of triplet repeat mutation?

Answer 19

Huntington’s disease

Too many of one triplet –> abnormal function and folding

Question 20

Define Monogenic

Answer 20

One gene determines one trait

Question 21

Define Polygenic

Answer 21

Multiple genes determine a characteristic

Question 22

Define Quantitative traits

Answer 22

Traits that vary in the extent to which they are expressed in each individual

Question 23

Define Incomplete Penetrance

Answer 23

Not every individual who has the genotype expresses the phenotype

Question 24

Define Multifactorial traits

Answer 24

Both environmental and genetic components

gene interacts with environment