Genomics

Question 1

What is a SNP

Answer 1

Single Nucleotide Polymorphism- different people can have a different nucleotide or base at a given location on a chromosome

Question 2

Pharmacogenomics

Answer 2

Larger scale, smaller effect with multiple variants

Question 3

Pharmacogenetics

Answer 3

Smaller scale- large single-variant effect

Question 4

Pharmacodynamics & genomics

Answer 4

What a drug does to the body- variations in drug targets

Question 5

Pharmacokinetic & genomics

Answer 5

What a body does to a drug- often affects receptor proteins- mostly in metabolism of the drug

Question 6

What is a phenotype

Answer 6

Characteristic

Question 7

Genomics & succ

Answer 7

Prolonged apnea after administration- structural effect on enzyme (pseudocholinesterase) metabolizing succ

Question 8

Genomics & MH

Answer 8

RYR1 gene in about 50% of cases

Question 9

Genomics & red hair

Answer 9

Require 20% more des, more resistant to SC lidocaine, MC1R gene- reduced sensitivity to noxious stimuli, increased analgesic response to M-6-G

Question 10

Genomics & PONV

Answer 10

CYP450 enzymes metabolism of 5-HT3 antagonists

Question 11

Genomics & mu opioid receptor

Answer 11

OPRM1 is gene of interest, influences binding site on mu receptor- Homozygous (GG) require larger doses- have less PONV & less risk for opioid toxicity, A allele at risk for opioid toxicity. Also Beta-arrestin may desensitize opioid receptors after prolonged exposure

Question 12

Genomics & COMT

Answer 12

Reduced COMT activity increases catecholamines which increases pain sensitivity BUT lower doses of opioids may be required

Question 13

Genomics & p-glycoprotein efflux transporter

Answer 13

Variant combinations associated with opioid side effects- homozygous carriers of variant C>T experience greater pain relief than carriers of 1 C allel

Question 14

Order of magnitude of CYPs on medication metabolism

Answer 14

CYP3A4>2C>1A2>2E1>2D6>2B6

Question 15

CYP2D6 metabolizes which drugs related to anesthesia

Answer 15

Codeine, tramadol, oxycodone

Question 16

CYP3A4/3A5 metabolizes which drugs related to anesthesia

Answer 16

Codeine, dihydrocodeine, fentanyl, tramadol, methadone, oxycodone, benzos, locals

Question 17

Ultrarapid metabolizers

Answer 17

Variation in CYP2D6 (multiple copies)- therapeutic effects cannot be obtained at conventional doses

Question 18

Extensive metabolizers

Answer 18

Normal enzyme activity in CYP2D6 (2 wild type alleles)

Question 19

Intermediate metabolizers

Answer 19

Reduced metabolism by CYP2D6- one inactive allele and one wild type allele

Question 20

Poor metabolizers

Answer 20

Increased risk of adverse side effects, therapeutic failure

Question 21

What is epigenetics

Answer 21

Heritable changes in gene function not explained by differences in DNA sequence

Question 22

What is the only syndrome 23&me can effect

Answer 22

Bloom syndrome–changes DNA copying & repair–higher risk of cancer