Pharmacogenomics - Quiz 4 Flashcards

1
Q

What is pharmacogenomics?

A

Examinign inherited variations in genes tat determine a patient’s response to a drug
* Personalizing medications

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2
Q

What is the difference between dominant and recessive traits?

A

Dominant: Requires one copy of the allele from one parent
Recessive: Requires 2 copies, one from each parent

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3
Q

What is DNA?

A

Genetic infom that has 2 long chains of nucleotides joined by H bonds and twisted into a double helix

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4
Q

What is a nucleotide?

A

Subunit of nucleic acids DNA and RNA

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5
Q

What are the purines?

A

Adenine and guanine

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5
Q

What are the pyrimidines?

A

Thymine, cytosine, uracil

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6
Q

What is a chromosone?

A

A tightly packed structure within the cell nucleus consisting ofDNA and proteins

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7
Q

What is a gene?

A

A specific sequence of nucleotides that code for a single protein

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8
Q

What is an allele?

A

Specific form of a gene that has a wild or variants

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9
Q

What is a genotype?

A

Unique genes that deterine specific traits in an individual

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10
Q

What is a phenotype?

A

An observable trait that is expressed

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11
Q

What is a halotype?

A

DNA variatons that exist on the same chromosone and are inherited together

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12
Q

What is polymorphism?

A

An inherited variation in the DNA sequene

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13
Q

What is the most common genetic alteration in DNA?

A

SNPs

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14
Q

What is a SNP?

A

Change in a single base pair in the genetic sequence

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15
Q

Describe the characteristics of poor metabolizers?

A
  1. No enzyme actvity
  2. Drug levels increase due to less metabolism
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16
Q

Describe the characteristics of normal metabolizers?

A

Fully functional enzyme activity that has expected drug response

17
Q

What are the characteristics of ultrarapid and rapid metabolizers?

A

Higher enzyme activiy with a faster metabolism that causes drug levels to decrease

18
Q

Genetic testing for Abacavir?

A

HLA-B*5701

19
Q

Abacavir

A

Ziagen, Triumeq, Epzicom

20
Q

Patients who test positive for HLA-B*5701 and recieves Abacavir?

A

Fatal hypersensitivity

21
Q

Genetic testings for Allopurinol

A

HLA-B*5801

22
Q

Allopurinol

A

Zyloprim, Aloprim

23
Q

Patients who test positive for HLA-B*5801 and recieves Allopurinol?

A

SJS

24
Q

Drugs that are impacted by HLA-B*1502

A
  1. Carbamazepine (Tegretol)
  2. Oxcarbazepine (Trileptal)
  3. Phenytoin (Dilantin)
  4. Fosphenytoin (Cerebyx)
25
Q

Patients who test positive for HLA-B*1502 and recieves drugs impacted by gene?

A

SJS, TENS

Asians should be tested before getting carbamazepine
* Suggested for oxcarbazepine
* Optional for phenytoin, fosphenytoin

26
Q

Drugs that require HLA tesing?

A
  1. Abacavir
  2. Allopurinol
  3. Carbamazepine
  4. Oxcarbazapine
  5. Phenytoin
  6. Fosphenytoin
27
Q

Testing for Citalopram?

A

CYP2C19

28
Q

Testing for codiene?

A

CYP2D6

29
Q

Testing for warfarin?

A

CYP2C9*2 and *3, VKORC1

30
Q

ultra metabolizers Patients who and recieve Codiene?

A

High risk for morphine toxicity

31
Q

Patients who are poor metabolizers and receive clopidogrel?

A

Increased CV events due to inactivated drugs

32
Q

Genetic testing for Trastuzumab?

A

HER2 negative should not use drug due to its uneffectiveness

  • Requires the overexpression of HER2 to be effective
33
Q

Genetic testing for Cetuximab?

A

If KRAS mutation is positive, drug should not be used

34
Q

Genetic testing for AZA?

A

Low or absent TPMT can increase risk for myelosuppression

35
Q

Genetic testing for capecitabine?

A

DPD deficiency can increase risk for toxicity

36
Q

Trastuzamab

A

Herceptin

37
Q

Cetuximab

A

Erbitux

38
Q

Capecitabine

A

Xeloda

39
Q

Azathioprine

A

Azasan, Imuran

40
Q

Drugs where genetic testing is strongly recommended

A
  1. Abacavir
  2. Azathioprine
  3. Carbamazepine
  4. Cetuximab
  5. Trastuzumab