Pharmacogenetecs Flashcards


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1

Transduction:

The translation of receptor binding to biological effect

2

4 examples of receptors are

Ligand-gated ion channels
G-Protein couple receptors
Enzyme linked receptors
Intracellular receptors

3

3 membrane bound receptors

Ligand-gated ion channels
g-protein couple receptors
Enzyme-linked

4

Intracellular receptors are

Lipids/lipid soluble

5

Nicotinic receptors are stimulated by

Acetylcholine

6

Nicotinic agonists leads to

sodium influx and potassium efflux

7

Ionized molecules cannot move through the cell wall without

a channel

8

G-protein receptors have an agonist, which is also called a

First messenger

9

First messengers are also called

signaling molecules

10

Second messenger processes are also called

cascades

11

pKa is

Ionization constant

12

Bioavilability is calculated as

AUC

13

AUC is

Area under curve

14

Vd is

Volume of distribution

15

Volume of distribution is

the fluid volume required to contain the entire drug in the body at the same time.

16

tolerance

no change in ligand binding, you have less receptor

17

desensitization

same amount of receptor, just not as responsive to drug

18

Currently how many drugs are on the market with pharmacogenomic information in their drug label?

<100

19

Changing metabolism changes:

clearance

20

Changing clearance changes

plasma concentration

21

Changing plasma concentration changes

Efficacy

22

Genetic variations can alter

Drug metabolism, efficacy (Emax), therapeutic effects

23

Allele

Two or more alternate forms of DNA at a given location (gene)

24

Geneotype

The genetic constitution of an individual (combination of two alleles for a gene)

25

Single Nucleotide Polymorphism

SNP

26

SNP has two types

synonymous
Non-synonymous

27

SNP

single base pair positions in genomic DNA <1%

28

SNPs are identified by their position in the gene sequence

521T-C SNP

29

+ means

protein coding

30

- means

in sequence

31

521 T -> C means

At
521 position
Arrow denotes change
T turns into C
T is major, C is minor

32

521T - Allele 1 (*1a) means

...

33

Alleles are given star numbers.

The number doesnt mean anything, just the number they were discovered

34

Allele is also referenced as

Haplotype

35

Haplotype also means

Allele

36

521TC -> *1a/*5

On one chromosome they have T at this position, on another chromosome they have C at this position, T corresponds to 1a, C corresponds to 5

37

OATP1B1*1a/*5

Gene name followed by genotype is gene nomenclature

38

Copy number variation

Gene duplication can lead to new variants or multiple copies

39

CPIC

Clinical pharmacogenetics implementation consortium

40

Phenotype and ___ found in tables of CPIC

recommendations classified by strength

41

*2 and *5 pt, what is their recommendation for codeine?

regular dose

42

Know general concepts. Ultrafast metabolizer, metabolizer groups,

look at graph to identify poor metabolizer

43

look at graph and identify highest efficacy

look at graph identify highest potency

44

no math on test

no unit conversions

45

20% from first lecture

60% PK

46

heavy on new definitions

phew

47

Amino acid based, water-soluble hormones receptors

Are on the outside of the cell because they cannot pass through the plasma membrane

48

Because they cannot pass through the cell wall, what are the most common channels called that proteins use?

G protein-coupled receptors

49

What do G protein-coupled receptors do to send a message inside the cell?

Use the second messenger system to amplify the effect within the cell.

50

3 Common second messengers are:

cyclic AMP (cAMP)
Inositol triphosphate (IP3)
diacylglycerol (DAG)

51

How does thyroxine tell a cell to do stuff?

Intracellular receptors inside the cytoplasm or nucleus of the target cell.

52

Steroid hormones often activate

Genes and protein synthesis