Pharmacogenetics Flashcards

1
Q

How many chromosome does a human have?

A

46 in total
2 sex chromosome
22 pairs of autosomal chromosomes

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2
Q

How many haploid DNA base pairs does a human have?

A

3 billion

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3
Q

How many diploid DNA base pairs does a human have?

A

6 billion

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4
Q

Explain genotype vs phenotype

A
Genotype = organism's genetic makeup that includes all alleles situated on homologous chromosomes
Phenotype = observable characteristics of an organism resulting from the interaction of its genotype with the environment
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5
Q

Define pharmacogenetics

A

The study of variability in drug response due to heredity

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6
Q

Name the steps in phase I metabolism

A

Oxidation
Hydroxylation
Reduction
Hydrolysis

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7
Q

What is phase II metabolism?

A

Conjugation

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8
Q

Which drugs are metabolised by n-acetyltransferase?

A
Isoniazid
Sulfonamids
Procainamide
Hydralazine
Caffeine
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9
Q

Name the two functions of the CYP250 system

A
  1. Formation of cholesterol, steroids and arachidonic acid metabolites
  2. Metabolism and detoxification of xenobiotics
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10
Q

Which CYP450 gene metabolizes the majority of drugs?

A

CYP3A4/5 > CYP2D6 > CYP2C8/9

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11
Q

Which CYP450 gene metabolizes TCAs, SSRIs and antipsychotics?

A

CYP2D6

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12
Q

Which CYP450 gene metabolizes codeine?

A

CYP2D6 -> morphine

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13
Q

Which CYP450 gene metabolizes tramadol?

A

CYP2D6 -> O-desmethyltramadol (higher affinity for u opioid receptor)

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14
Q

Which CYP450 gene metabolizes proton pump inhibitors?

A

CYP2C19

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15
Q

Which CYP450 gene metabolizes proguanil?

A

CYP2C19 -> cycloguanil

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16
Q

Which CYP450 gene metabolizes clopidogrel?

A

CYP2C19

17
Q

Which drugs inhibit CYP2C9?

A

INH

18
Q

Which drugs induce CYP2C9?

A

Ritonavir

Nelfinavir

19
Q

Which CYP450 gene metabolizes wafarin?

A

CYP2C19

20
Q

What does high expression of HER2 indicated?

A

Better response to herceptin therapy

21
Q

What is the result of a thiopurine s-methyltransferase deficiency?

A

Haematopoetic toxicity with 6-mercaptopurine

22
Q

What is the result of a dihydropyrimidine dehydrogenase deficiency?

A

Neurotoxicity with 5-fluorouracil

23
Q

What is the result of a thymidylate synthase overexpression?

A

Cancer resistance

24
Q

Which ARV has severe side effects in some white males?

A

Abacavir

25
Q

Which CYP450 gene metabolizses ARVs?

A

CYP3A4