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PHARMACOGENOMICS > EXAM 1 > Flashcards

EXAM 1 Flashcards

1
Q

what is an actionable signature?

A

information used to make a treatment decision

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2
Q

FDA has approved ___ pharmacogenomic drug labels as of 2018

A

150

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3
Q

how many entries for FDA drug labels in 2020 and 2023

A

385 and 517

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4
Q

polymorphisms that determine 50% of dose variance in warfarin patients

A

VKOCR1, CYP2C9, CYP4F2

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5
Q

pharmacokinetics

A

what body does to drug: absorption, distribution, metabolism, excretion (ADME)

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6
Q

pharmacodynamics

A

what drug does to body: receptor, target, signaling, enzymes

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7
Q

pharmacists role

A

RDEC - recommend testing, design drug regimens, educate, communicate therapy reccomendations

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8
Q

DNA bases

A

adenine
thymine
guanine
cytosine

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9
Q

DNA structure?

A

anti parallel

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10
Q

A-T how many hydrogen bonds?

A

2

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11
Q

G-C how many hydrogen bonds?

A

3

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12
Q

genome

A

organisms complete set of DNA (all info needed to build and maintain organism)

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13
Q

how many DNA base pairs in genome?

A

3 billion

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14
Q

kilobase = ____ bp

A

1000

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15
Q

megabase = ____ bp

A

1 million

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16
Q

how many genes in genome

A

about 21,000

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17
Q

gene

A

sequence of DNA/RNA that code for a molecule that has a function

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18
Q

genes size

A

a few hundred DNA bases to 2 million

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19
Q

protein coding genes

A

genes expressed to be proteins

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20
Q

how much of the genome are protein coding genes?

A

1-3%

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21
Q

what do micoRNAs do?

A

important role in regulating protein coding gene expression

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22
Q

on average how many exons/introns per gene?

A

8.8 exons, 7.8 introns

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23
Q

professors favorite gene

A

SCN2A

24
Q

green part

A

flanking sequence

25
Q

red part

A

UTR

26
Q

blue part

A

translated sequence, where it begins

27
Q

human genome: chromosome, autosome number

A

46 chromosomes, 23 autosomes, 1 pair of sex chromosomes

28
Q

karyotype

A

complete picture of the genome in a cell

29
Q

haploid genome represents

A

chromosomes from each parents

30
Q

diploid genome represents

A

23 from each parent put together

31
Q

central dogma

A

DNA-RNA-protein
replication-transcription-translation
reverse transcription-RNA replication-prion

32
Q

coronavirus is in which stage

A

RNA replication

33
Q

what happens in transcription

A

mRNA maturation process, promoter and introns cut, poly A tail

34
Q

where is DNA and mRNA precursor located?

A

nucleus

35
Q

where is matured mRNA located?

A

cytoplasm

36
Q

thymine in DNA = ___ in RNA

A

uracil (U)

37
Q

what happens in translation?

A

matured mRNA becomes protein

38
Q

protein starts with ____

A

AUG - methionine

39
Q

stop codons are

A

UAA, UGA, UAG

40
Q

what includes the open reading frame or DNA coding sequence?

A

AUG to codon before stop codon

41
Q

how many codons are there?

A

64

42
Q

how many amino acids are there?

A

20

43
Q

what is a sequence variation?

A

polymorphism

44
Q

where is a polymorphism?

A

at the same position of homologous chromosomes (diploid genome)

45
Q

polymorphisms are not in single germ cell, _____ genome

A

haploid

46
Q

what is a genotype?

A

combination of alleles at the same locus of homologous chromosomes in a genome (T/C)

47
Q

homozygote alleles

A

identical, T/T

48
Q

heterozygote alleles

A

different, T/C

49
Q

hemizygous

A

one allele missing
also is heterozygous

50
Q

Mendels Law

A

each parent passes a randomly selected allele (one of the two chromosomes) to offspring

51
Q

most common type of polymorphism

A

SNP

52
Q

non-synonymous SNP

A

changes the amino acid

53
Q

missense SNP

A

changes amino acid (loss of function or gain of function)

54
Q

nonsense SNP

A

changes amino acid to stop (loss of function)

55
Q

synonymous SNP

A

does not change amino acid, doesn’t change function

56
Q

copy number variation

A

DNA region with 0 to n copies in a populaition

57
Q
A

PHARMACOGENOMICS (2 decks)

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