Pharmacogenetics

Question 1

Interindividual variability factors

Answer 1

Environmental
pollutants
ethnicity

Question 2

Different cross interactions

Answer 2

Drug-Gene
Gene-Environment
Environment-Drug

Question 3

Pharmacogenetics Def

Answer 3

The study of the effect of variations in DNA sequence on drug response in terms of both the metabolism/clearance and action of the drug delivered

Question 4

Pharmacogenetics vs pharmacogenomics

Answer 4

Genetics is worried about how one gene effects a drugs

genomics covers the entire genome on drug response

Question 5

synonymous polymorph

Answer 5

In a coding section but doesn’t change the end AA

Question 6

Non-synonymous polymorph

Answer 6

in a coding section and does change the end AA

Question 7

Missense polymorph

Answer 7

Non-synonymous mutation that causes a change in the AA

Question 8

Nonsense polymorph

Answer 8

Non-synonymous mutation that causes a premature stop codon

Question 9

Probe drug

Answer 9

drug used to determine a enzymes function as it is only metabolized by that enzyme

Question 10

Dextromethorphan probe

Answer 10

used to test CYP2D6
High DM:DX is a slow metabolizer
Low DM:DX is a fast metabolizer

Question 11

ABC family transporters

Answer 11

These are Efflux transporters can aid in chemo resistance and other drug resistance if low amounts are present

Question 12

Solute carrier family transporters (SLC

Answer 12

These are influx transporters
contains
OAT anionic
OATP anionic polypeptides
OCT cationic

Question 13

inherited testing

Answer 13

When we want to know exact familiar variant and more than one variant is associated with issue

Question 14

Tumor testing

Answer 14

strategy depends on the goal for diagnostic, prognosis or treatment

Question 15

Single gene sequencing

Answer 15

can use Sanger or next ten sequencing
-use: mutation is not known and one gene is under investigation
don’t: mutation is not known, more than one gene could be associated, history suggests more than one inherited syndrome

Question 16

CNV or deletion/duplication analysis

Answer 16

Attaches florescent tag to DNA sequence
use: del/dup are common mutations for condition, single gene test was negative but likely hood is high
Don’t: mutation doesn’t involve CNV, more than one hereditary syndrome

Question 17

Targeted mutation analysis

Answer 17

attaches probe to the known mutated nucleotides
use: mutation is known, can be looking at many sites with similar mutation

Question 18

Multi gene panels

Answer 18

Uses next gen to look at many sites
use: mutation is unknown, many sites like to have mutation, many hereditary syndromes likely
don’t: mutation is known, only one gene linked to disease

Question 19

Whole genome/exome sequencing

Answer 19

Everything is looked at
Use: when all else fails but hereditary likely, need a family member to take it too
Don’t: other targeted option is better, family is not available

Question 20

Thalassemia

Answer 20

genetic disease affecting hemoglobin production

Question 21

Cystic fibrosis

Answer 21

genetic disease that causes think mucus build up everywhere