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Pharm > Pharmacogenomics > Flashcards

Pharmacogenomics Flashcards

1
Q

What are pharmacogenetics?

A

Study of the genetic basis for variations in drug response. Typically used to define the study of how variation in single genes influence the response to a single drug

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2
Q

What are pharmacogenomics?

A

The study of how all of the genes (the genome) can influence responses to drugs

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3
Q

What is the usual response rate to drugs?

A

25-70%

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4
Q

What are the four clinical applications of pharmacogenetics/genomics?

A
  1. Appropriate pt selection
  2. Identify pt risk
  3. Optimization of drug dosing
  4. Increase efficiency of drug development
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5
Q

How does pharmacogenetics lead to increased efficiency of drug development trials?

A

Can select out people who would have a response.

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6
Q

What is a monogenic drug response?

A

Variation in a single gene causing difference in specific drug response

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7
Q

What is a multigenic drug response?

A

Variations in multiple gene causing difference in a specific drug response

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8
Q

What is gut pharmacol microbiomes?

A

Changes in drugs from bacteria can change its effects

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9
Q

What is the 5’ protective bit of DNA? 3’?

A

5’ cap.

Poly-A 3’ tail

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10
Q

What is removed during splicing?

A

Introns removed.

Exons Expressed

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11
Q

What is the function of eukaryotic RNA pol I-III?

A

I =***
II =
III =

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12
Q

True or false: genetic variations in the introns can affect expression

A

True

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13
Q

What is a mutation as compared to a polymorphism?

A

Mutation = DNA code change in less than 1% of the population

Polymorphism = DNA code change in MORE than 1% of the population

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14
Q

What is an allele?

A

One number of alternate forms of a gene

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15
Q

An individual usually has how many alleles?

A

two (maternal and paternal)

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16
Q

What are single nucleotide polymorphisms?

A

Single nucleotide change in an allele

17
Q

What is a synonymous SNP? What is the significance of this?

A

When the base pair does NOT cause an amino acid substitution.

may result in change in transcript stability, leading to increased or decreased protein expression

18
Q

What is a nonsynonymous SNP? What is the significance of this?

A

Base pair changes that lead to an amino acid substitution

May change protein structure, stability, substrate affinity.

19
Q

How can synonymous SNPs lead to changes in the protein expression?

A

Alternate splicing products, variable stability of the DNA

20
Q

How can noncoding SNPs alter DNA? (4)

A

Alter:

  • Transcription factor binding
  • Splicing
  • Transcript stability
  • Enhancer functions
21
Q

What are frameshift mutations?

A

Insertions/deletions that lead to changes in everything downstream of the nucleotide change

22
Q

What are copy number variations? What can these result in?

A

When an entire gene is duplicated or deleted

Can result in gain or loss of function

23
Q

What are cosmopolitan polymorphisms?

A

Polymorphisms common across all ethnic groups

24
Q

What are population polymorphisms?

A

Polymorphisms that differ between groups (ethnic or race)

25
Q

What CYP enzyme polymorphism is only found in the japanese?

A

CYP2C18

26
Q

What is the phenotype-to-genotype approach?

A

Start out by directly measuring pharmacogenetic trait (e.g. effect of warfarin on blood coagulation)

27
Q

What is a pharmacogenetic trait?

A

Any measurable trait associated with a drug (e.g. enzyme activity, drug levels in bodily fluids etc)

28
Q

What are the major advantages and disadvantages of the phenotype-to-genotype approach?

A

benefit = sum of all genes giving rise to an effect

Disadvantage = Miss non-genetic influences

29
Q

What are the steps of phenotype-to-genotype approach?

A

See the effect of a drug, then group people accordingly and genotype them

30
Q

What is the candidate gene approach?

A

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

31
Q

What is the genome-wide approach?

A

Unbiased survey of all difference in entire genome between two groups

32
Q

What are the three major genome sequencing techniques?

A

Sanger
SNP microarrays
Next gen

33
Q

What are the steps of the Sanger sequence?

A

Primer and DNA polymerases along with fluorinated ddNTPs, which cause termination of the growing nucleotide

34
Q

What is the gold standard for DNA sequencing?

A

Sanger

35
Q

How do the SNP microarrays work?

A

ssDNA fragments used where there are known to be SNPs. Fragmented sample spotted onto a plate with different SNP allele.

Different color wavelengths correspond to different allele combinations

36
Q

What is involved in next-gen sequencing?

A

Isolated genomic fragments, that are adhered to plates/beads. Heights can be measured in order to determine sequence

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