personalized medicine

Question 1

pharmacogenetics

Answer 1

the influence of genetic factors on the response to and toxicity of foreign chemicals

Question 2

What does diploid mean

Answer 2

in the context of genetics, diploid refers to the fact that we have 2 copies of every nucleotide of DNA, therefore we are diploid

Question 3

haploid genome

Answer 3

1 member and the 23 pairs of chromosomes from 1 parent

Question 4

Haplotype

Answer 4

this is a combination of alleles on the same chromosome and where variation stems from

Question 5

T/F. Variants can be rare or polymorphic.

Answer 5

True

Question 6

what does polymorphic mean in relation to variation

Answer 6

polymorphism means that more than 1 % of the population has the allele possibility

Question 7

single nucleotide polymorphisms (SNPs)

Answer 7

nucleotide substitutions that occur frequently in populations

Question 8

types of mutations in DNA

Answer 8

large and point mutations

Question 9

large mutations

Answer 9

gene deletions, insertions duplications and inversions

Question 10

point mutations

Answer 10

substitutions and frameshift (addition/deletion of 1 or two bases)

Question 11

what is the significance of SNPs in relation to pharmacology

Answer 11

1. SNPs can be useful for mapping and makers of disease disposition and drug targets because this is a variability so people can usually have one or the other and the one can potentially lead to a drug target or disease disposition
2. SNps can also influence how we respond to medications

Question 12

genetic classification of variants

Answer 12

monogenic and polygenic

Question 13

what can monogenic be further divided into

Answer 13

polymorphic and rare

Question 14

Monogenic

Answer 14

variations in phenotype that arises from a single gene

Question 15

polygenic

Answer 15

variants that arise from multiple gene contribution

Question 16

T/F CYP2D is not polymorphic

Answer 16

false

Question 17

what does it mean for a cytochrome P450 to be polymorphic

Answer 17

this means that and individual can either have a higher metabolizer version or slower metabolizers

Question 18

Give an example of polymorphism of CYP2D6

Answer 18

Debrisoquine, an anti-hypertensive drug can show orthostatic hypertension in individuals that are slow metabolizers of this drug

Spartane, an oxytoxic agent used during birth can show side effects of uterine contractions in individuals hat have CYP2D6 as a slow metabolizer

Question 19

What are some drugs effected CYP2D6 polymorphism

Answer 19

codeine, dextromethorphorin, tamoxifen

Question 20

what is the effect of CYP2D6 on the analgesia effect on codeine

Answer 20

codeine is converted into morphine by CYP2D6 however CYP2D6 poor metabolizers will result in less potent pain relief

Question 21

if a person is a CYP2D6 poor metabolizer, will this mean they will have a higher or lower plasma concentration of drug

Answer 21

this will mean they have higher plasma concentration due to less biotransformation

Question 22

what does tamoxifen bio transform into from CYP2D6

Answer 22

it will bio transform into a more active anti-estrogen endoxifen

Question 23

what is warfarin metabolized by

Answer 23

CYP2C9

Question 24

if an individual is on warfarin for preventing blood clots what will happen if they have a defective CYP2C9

Answer 24

the individual will need a dose reduction to avoid bleeding side effects

Question 25

what cytochrome is involved in the metabolism of omeprazole

Answer 25

CYP2C19

Question 26

what is omeprazole used for

Answer 26

it is a proton pump inhibitory for excessive acid reflux and gastric acidity

Question 27

what does CYP2C19 transform omeprazole

Answer 27

it can transform it into 2 less active metabolites

Question 28

what will happen to a CYP2C19 PM who take omeprazole

Answer 28

they show to have a better reduction of stomach acidity due to the parent drug being more active to facilitate gastric acidity control

Question 29

what phase II metabolism transfer protein is involved in the biotransformation of 6-mercaptopurine

Answer 29

thiopurine methyltransferase (TPMT)

Question 30

What is the TPMT supposed to do in order for 6MP to be detoxified?
What happens if this doesn’t happen fast enough

Answer 30

it will catalyze the methylation of sulphur and lead to thioquanine nucleotides a compound that leads to cytotoxicity

Question 31

list the polymorphic cytochrome P450s and transfer proteins

Answer 31

CYP2D6
CYP2C19
CYP2C9
Thiopurine methyltransferase