EXAM 1

Question 1

what is an actionable signature?

Answer 1

information used to make a treatment decision

Question 2

FDA has approved ___ pharmacogenomic drug labels as of 2018

Answer 2

150

Question 3

how many entries for FDA drug labels in 2020 and 2023

Answer 3

385 and 517

Question 4

polymorphisms that determine 50% of dose variance in warfarin patients

Answer 4

VKOCR1, CYP2C9, CYP4F2

Question 5

pharmacokinetics

Answer 5

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

Question 6

pharmacodynamics

Answer 6

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

Question 7

pharmacists role

Answer 7

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

Question 8

DNA bases

Answer 8

adenine
thymine
guanine
cytosine

Question 9

DNA structure?

Answer 9

anti parallel

Question 10

A-T how many hydrogen bonds?

Answer 10

2

Question 11

G-C how many hydrogen bonds?

Answer 11

3

Question 12

genome

Answer 12

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

Question 13

how many DNA base pairs in genome?

Answer 13

3 billion

Question 14

kilobase = ____ bp

Answer 14

1000

Question 15

megabase = ____ bp

Answer 15

1 million

Question 16

how many genes in genome

Answer 16

about 21,000

Question 17

gene

Answer 17

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

Question 18

genes size

Answer 18

a few hundred DNA bases to 2 million

Question 19

protein coding genes

Answer 19

genes expressed to be proteins

Question 20

how much of the genome are protein coding genes?

Answer 20

1-3%

Question 21

what do micoRNAs do?

Answer 21

important role in regulating protein coding gene expression

Question 22

on average how many exons/introns per gene?

Answer 22

8.8 exons, 7.8 introns

Question 23

professors favorite gene

Answer 23

SCN2A

Question 24

green part

Answer 24

flanking sequence

Question 25

red part

Answer 25

UTR

Question 26

blue part

Answer 26

translated sequence, where it begins

Question 27

human genome: chromosome, autosome number

Answer 27

46 chromosomes, 23 autosomes, 1 pair of sex chromosomes

Question 28

karyotype

Answer 28

complete picture of the genome in a cell

Question 29

haploid genome represents

Answer 29

chromosomes from each parents

Question 30

diploid genome represents

Answer 30

23 from each parent put together

Question 31

central dogma

Answer 31

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

Question 32

coronavirus is in which stage

Answer 32

RNA replication

Question 33

what happens in transcription

Answer 33

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

Question 34

where is DNA and mRNA precursor located?

Answer 34

nucleus

Question 35

where is matured mRNA located?

Answer 35

cytoplasm

Question 36

thymine in DNA = ___ in RNA

Answer 36

uracil (U)

Question 37

what happens in translation?

Answer 37

matured mRNA becomes protein

Question 38

protein starts with ____

Answer 38

AUG - methionine

Question 39

stop codons are

Answer 39

UAA, UGA, UAG

Question 40

what includes the open reading frame or DNA coding sequence?

Answer 40

AUG to codon before stop codon

Question 41

how many codons are there?

Answer 41

64

Question 42

how many amino acids are there?

Answer 42

20

Question 43

what is a sequence variation?

Answer 43

polymorphism

Question 44

where is a polymorphism?

Answer 44

at the same position of homologous chromosomes (diploid genome)

Question 45

polymorphisms are not in single germ cell, _____ genome

Answer 45

haploid

Question 46

what is a genotype?

Answer 46

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

Question 47

homozygote alleles

Answer 47

identical, T/T

Question 48

heterozygote alleles

Answer 48

different, T/C

Question 49

hemizygous

Answer 49

one allele missing also is heterozygous

Question 50

Mendels Law

Answer 50

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

Question 51

most common type of polymorphism

Answer 51

SNP

Question 52

non-synonymous SNP

Answer 52

changes the amino acid

Question 53

missense SNP

Answer 53

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

Question 54

nonsense SNP

Answer 54

changes amino acid to stop (loss of function)

Question 55

synonymous SNP

Answer 55

does not change amino acid, doesn't change function

Question 56

copy number variation

Answer 56

DNA region with 0 to n copies in a populaition