Pharmacogenetics Flashcards

1
Q

What are the potential benefits of pharmacogenomics?

A

More powerful medicines and lesser side effects

Better vaccines

Decreased cost of hospitalization

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2
Q

Variability in drug response is due to what intrinsic factors?

A

Genetic difference

Developmental stage

Sex

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3
Q

Protection or susceptibility to urinary and colorectal cancer when exposed to certain xenobiotics may be associated with genes that encode for?

A

NAT2

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4
Q

True or false, in the presence of thiopurine S methyltransferase deficiency, the dose of 6-mercaptopurine may be decreased to as low as 5% of the standard dose?

A

True

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5
Q

Which phase II metabolizing enzyme require a very significant dose reduction in the presence of a deficiency?

A

TMPT

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6
Q

Which of the following is associated with polymorphisms resulting from pharmacodynamic variations: slow acetylator phenotype, aminoglycoside induced deafness, warfarin resistance and warfarin sensitivity?

A

Warfarin resistance

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7
Q

Pharmacokinetic variations involve?

A

Transporters

Metabolizing enzymes

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8
Q

What deficiency is associated with hemolysis with primaquine?

A

G6PD deficiency

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9
Q

What deficiency is associated with prolonged apnea from the use of succinylcholine?

A

Pseudocholinesterase deficiency

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10
Q

What is associated with trimodal distribution of isoniazid metabolism?

A

N-acetyl transferase

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11
Q

What is related to cyanosis associated with abnormal hemoglobin following exposure to xenobiotics?

A

Methemoglobin reductase deficiency

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12
Q

What do call a variation in at least 1% of the population?

A

Genetic polymorphism

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13
Q

What is the prodrug used in the pharmacogenetic study of CYP2D6?

A

Debrisoquine

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14
Q

Which is the most common type of polymorphism in the human genome?

A

Single nucelotide polymorphism (SNP)

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15
Q

Administration of 6-mercaptopurine will have what undesirable effect?

A

Profound myelosuppression

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16
Q

An atypical alcohol dehydrogenase variant of ß2 subunit is responsible for?

A

Higher Km for homozygous ß2ß2

17
Q

Which is pharmacogenetic: malignant hypothermia, oligodontia, Waardenburg syndrome and Treacher Collins syndrome?

A

Malignant hypothermia