Exam 1 - principle of drug individualization Flashcards

1
Q

segment of DNA that contains information for encoding a protein.

A

Gene

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2
Q

SNPs
Single nucleotide polymorphism

A

. e.g. rs10516526
an alteration of a single pair in a DNA sequence

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3
Q

alleles

A

Different DNA sequences at a locus. e.g. rs10516526 G

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4
Q

genotype

A

Pair of alleles at a particular locus:

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5
Q

is the observable property of an organism; a trait such as height, weight, medical condition, etc.

A

Phenotype

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6
Q

A set of DNA variations, or polymorphisms, that tend to be inherited together

A

halpotype

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7
Q

Factors that make individuals or subgroups of a population different from the rest

A

Diversity

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8
Q

What are the three main factors affecting patient drug response

A

Environment
Biology
genetics

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9
Q

Why should you personlize/individualize medicine? why not just use reccomended dose?

A

becuase current knowledge of dosage, outcomes and results of drugs are based on statistics.

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10
Q

What is pharmacogenomics

A

the study of how genes affect a persons response to drugs

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11
Q

What is the goal of pharmacogenetics (two different phrases)

A

“to get the right dose of the right drug to the right patient at the right time”
“to enhance drug efficacy and reduce drug toxicity”

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12
Q

What is a big reason that statistical drug doses do not work for certain populations

A

the statistics were based on people who are “middle of the curve” AKA they were all one race, no co-morbitities, middle-aged ect. If the drug is not working on a person or population it is likely that person or population is “outside the middle of the curve”

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13
Q

What is the hardest administration type to absorb

A

oral

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14
Q

What is the easiest administration type to absorb

A

intravenous

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15
Q

Describe the systemic approach to genetic variations (What, who, how how)

A

What - (what are the genetic variations and what is affected: such as enszymes, transporters, receptors or disease.)
Who - determine who is imacted (what population of indiviuals such as the obese population, a certain race, or age group)
How - how is this relevent to the drug (?)
and how is this relevant to a disease (?)

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16
Q

What reactions occur during phase one of drug metabolism

A

oxidation, hydroxylation, reduction, and hydrolysis

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17
Q

What is the example for phase 1 of drug metabolism

A

CYPs

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18
Q

What reactions occur during phase 2 of drug metabolism

A

conjugation

19
Q

normal metabolizing persons.

A

extensive metabolizers

20
Q

individuals who are homozygous with two homozygous alleles that are abnormal which results in inactive or absent enzymes

A

Poor metabolizers

21
Q

in between extensive and poor becuase they are heterozygous for the normal and abnormal metabolizing gene

A

Intermediate metabolizer

22
Q

resulted from normal gene duplication or multiplication (look at slide 17 if you are confused)

A

ultra-rapid metabolizer

23
Q

___________________ a transport system superfamily that is one of the largest and possibly one of the oldest gene families

A

ATP binding cassette (ABC)

24
Q

Those who lack CYP2D6 or who do not posses CYP2D6 that works well are considered

A

poor metabolizers

25
CYP2D6 determines __________
whether someone has good (high CYP2D6) metabolism or bad (low CYD2D6) metabolism. (Maybe for this specific drug tamoxifen)
26
What is the job of CYPs
oxidation, hydroxylation, reduction and hydrolysis
27
what is the job of CYP2D6 specifically
hydrolysis
28
INR
international normalized ratio
29
UGT1A1*28
What is the genetic variant/marker for irinotecan
30
CYP2D6
What is the genetic variant/marker for codeine
31
CYP2C19
What is the genetic variant/marker for clopidogrel
32
SLCO1B1
What is the genetic variant/marker for Simvastatin
33
HER2+
What is the genetic variant/marker for Trastuzumab (for breast cancer)
34
ABCB
MRD1 -> reduced expression
35
ABCG pathway 1
BCRP ---> increased expression ----> increased drug clearance
36
ABCG pathway 2
BCRP----> loss of transport activity
37
ABCG pathway 3
BCRP ---> low expression, impaired transport activity, increased protein poteasoma degredation
38
ABCC pathway 1
MRP1 -->reduced transport activity
39
ABCC pathway2
MRP2---> no mRNA expression
40
ABCC pathway 3
MRP3---> reduced expression
41
ABCC pathway 4
MRP4--->reduced expression and function
42
VKOR is responsible for
vitamin k synthesis which is reqquired for coagulation
43
how does warfarin work
warfarin blocks VKOR --> VKOR is needed for vitamin K synthesis which is needed for coagulation