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PHRM 847 Pharmacogenomics > Quiz 1 (first 4 lectures) > Flashcards

Quiz 1 (first 4 lectures) Flashcards

1
Q

what are “actionable signatures”?

A

information used to make treatment decisions (ex. genetic markers)

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2
Q

polymorphisms in which 3 enzymes/CYPs determine ~50% of dose variance in pts taking warfarin?

A

VKORC1, CYP2C9, CYP4F2

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3
Q

the FDA has approved ~_____ pharmacogenomic drug labels as of 2018

A

~150

(385 entries in 2020, 517 entries in 2023)

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4
Q

ADME is part of

a. pharmacodynamics (PD)
b. pharmacokinetics (PK)

A

b. pharmacokinetics (PK)

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5
Q

receptors, targets, signaling, and enzymes are part of

a. pharmacodynamics (PD)
b. pharmacokinetics (PK)

A

a. pharmacodynamics (PD)

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6
Q

A and T are bonded with how many hydrogen bonds?

A

2

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7
Q

G and C are bonded with how many hydrogen bonds?

A

3

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8
Q

what is the diameter of DNA?

A

2 nm

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9
Q

the entire human genome is more than ________ DNA base pairs?

A

3 billion

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10
Q

gene vs genome

A

gene is a sequence of DNA or RNA which codes for a molecule that has a function; a genome is an organism’s complete set of DNA, including all of its genes

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11
Q

how many protein coding genes are in the human genome?

A

~20,000

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12
Q

what is the final product of a noncoding gene?

A

RNA (not a protein)

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13
Q

which RNAs plays a role in regulating protein-coding gene expression?

a. transfer RNAs (tRNA)
b. ribosomal RNAs (rRNA)
c. microRNAs (miRNA)

A

c. microRNAs (miRNA)

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14
Q

why do we have pairs of chromosomes?

A

one chromosome from each parent; this inc genetic diversity of the population; the different phenotypes lead to increased survival of the species

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15
Q

true or false: mature mRNA do not have introns

A

true

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16
Q

where does transcription occur in the cell?

A

nucleus

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17
Q

what is added to end of the mRNA precursor in transcription?

A

poly A tail

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18
Q

codon for start of translation

A

AUG (codes for methionine)

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19
Q

3 stop codons

A

UAG, UAA, UGA

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20
Q

what is another name for sequence variation?

A

polymorphism

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21
Q

a polymorphism is a sequence variation at the same position of __________ chromosomes (diploid genome)

A

homologous

22
Q

true or false: polymorphisms are common in the genome of a single germ cell (haploid genome)

A

false (no polymorphisms in haploid genome)

23
Q

the DNA sequence(s) at a locus of one of the two homologous chromosomes

a. allele
b. genotype

A

a. allele

24
Q

what is the combination of alleles at the same locus of the homologous chromosomes in a genome/cell called?

A

genotype

25
Q

what is the genotype when someone has a pair of identical alleles at the same locus?

A

homozygous

26
Q

what is the genotype when someone has two different alleles at the same locus?

A

heterozygous

27
Q

what does hemizygous mean?

A

one allele is present and one is missing (a hemizygous genotype is also heterozygous)

28
Q

what is Mendel’s Law of Segregation?

A

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

29
Q

most common type of polymorphism (accounts for > 90% of all genetic variations)

A

single nucleotide polymorphism (SNP)

30
Q

difference between non-synonymous and synonymous SNP

A

non-synonymous will change AA in the protein, synonymous will not change AAs

31
Q

two examples of non-synonymous SNPs that we talked about

A

-missense SNP -> AA substitution (gain or loss of function)
-nonsense SNP -> AA switches to stop codon (loss of function)

32
Q

example of synonymous SNP we talked about

A

silent SNP -> no AA change

33
Q

what SNP does a patient have if a sequence with a one base pair mutation now codes for Pro instead of His?

a. missense
b. nonsense
c. silent
d. intronic

A

a. missense (AA substitution)

34
Q

what is a copy number variation (CNV)? (I got this from internet)

A

when the # of copies of a particular gene varies from one person to the next

35
Q

if someone has 7 copy numbers of CYP2D6, will they need a lower dose or higher dose of CYP2D6 drugs?

A

higher dose bc they metabolize those drugs better

36
Q

which would be worse, an insertion/deletion of one nucleotide or 3 nucleotides?

A

one nucleotide bc this often causes a frameshift mutation leading to truncated protein for degradation

37
Q

which of the following is a protein?

a. CYP2C19*17
b. CYP2C19.17

A

b. CYP2C19.17

(proteins use a dot, alleles use a star)

38
Q

which of the following should be italicized?

a. CYP2C19*17
b. CYP2C19.17

A

a. CYP2C19*17

(Gene/allele is italicized. The star in the name means it is a gene, not a protein)

39
Q

what is minor allele frequency? (from internet)

A

frequency at which the second most common allele occurs in a given population

40
Q

difference between common/major/reference allele vs rare/minor/mutant allele

A

the common/major/reference occurs with frequency > 50% while the rare/minor/mutant allele occurs < 50%

41
Q

true or false: a rare allele is the same for every population

A

false (a rare allele in one population can be common in another population)

42
Q

which is the common allele and which is the rare allele in MDR1 3435T>C ?

A

T is common, C is rare allele

43
Q

what is a haplotype?

A

-a group of genes within an organism that were inherited together from a single parent
-also refer to the inheritance of a cluster of SNPs

44
Q

what is linkage disequilibrium?

a. random association of alleles at the same loci on the same chromosome
b. non-random association of alleles at different loci on the same chromosome
c. random association of alleles at different loci on different chromosomes
d. non-random association of alleles at the same loci on different chromosomes

A

b. non-random association of alleles at different loci on the same chromosome

45
Q

what kind of linkage disequilibrium (LD) is there in each case?

-when there are infinite recombinations
-when there is no recombination
-when recombination occurs in a portion of chromosomes

A

no LD
complete/perfect LD
incomplete LD

46
Q

R^2 value for complete/perfect LD

A

1

47
Q

R^2 value when there is no LD

A

0

48
Q

R^2 value when there is strong LD

A

0.8 or greater

49
Q

SNP1 and SNP2 has a linkage disequilibrium (LD) R2 value of 0.9. Which of the following is likely to be true:

a. SNP1 and SNP2 are inherited independently of each other
b. SNP1 and SNP2 have a high probability to be inherited together
c. SNP1 and SNP2 have a low probability to be inherited together
d. SNP1 and SNP2 are always inherited together

A

b. SNP1 and SNP2 have a high probability to be inherited together

50
Q

A missense mutation leads to ___

a. either gain-of-function or loss-of-function depending on the exact amino acid change
b. protein-truncation
c. loss-of-function
d.gain-of-function

A

a. either gain-of-function or loss-of-function depending on the exact amino acid change

51
Q

How many base pairs have been identified in the whole human genome?

a. ~3 million
b. ~30 million
c. ~300 million
d. ~3 billion

A

d. ~3 billion

PHRM 847 Pharmacogenomics (3 decks)

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