Pharmacogenomics I Flashcards

1
Q

definition: pharmacogenomics

A

study of how the genome can influence responses to drugs

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2
Q

definition: monogenic drug response

A

variation in a single gene causing difference in specific drug response

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3
Q

definition: multigenic drug response

A

variations in multiple genes causing difference in a specific drug response

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4
Q

variation in a single gene causing difference in specific drug response

A

monogenic drug response

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5
Q

variations in multiple genes causing difference in a specific drug response

A

multigenic drug response

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6
Q

definition: gene by environment phenotype

A

drug response is a complex interplay between environment and genetic factors

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7
Q

definition: SNP

A

one nucleotide in a gene is changed

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8
Q

where are SNPs located in the genome?

A

protein coding region

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9
Q

synonymous SNPs

A

base pair change does NOT cause amino acid substitution

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10
Q

nonsynonymous SNPs

A

base pair change leads to an amino acid substitution

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11
Q

base pair change does NOT cause amino acid substitution

A

synonymous SNP

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12
Q

base pair change leads to an amino acid substitution

A

nonsynonymous SNP

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13
Q

what are copy number variants (CNVs)?

A

complete deletion or duplication of a particular gene

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14
Q

definition: cosmopolitan polymorphisms

A

polymorphisms common across all ethnic groups

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15
Q

polymorphisms common across all ethnic groups

A

cosmopolitan polymorphisms

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16
Q

definition: population polymorphisms

A

polymorphisms that differ between groups (ethnic or race)

17
Q

polymorphisms that differ between groups (ethnic or race)

A

population polymorphisms

18
Q

definition: pharmacological traits

A

any measurable trait associated with a drug (phenotype)

19
Q

what is the benefit of pharmacological traits?

A

sum of all genes gives rise to an effect

20
Q

what is the disadvantage of pharmacological traits?

A

non-genetic influences give rise to unstable responses

21
Q

what is the phenotype to genotype approach?

A

start out by directly measuring pharmacogenetic trait, and genotype individuals from each groups to determine differences in DNA sequence

22
Q

what is the candidate gene approach?

A

determine polymorphisms by genotyping a specific gene that is predicted to cause differences in pharmacogenetic trait between the two groups

23
Q

what is the disadvantage of the candidate gene approach?

A

wrong gene might be studied

24
Q

what is the disadvantage of the genome wide approach?

A

identification that does not matter

25
Q

what is the genome wide approach?

A

unbiased survey of all differences in entire genome between two groups