Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
21 Cards in this Set
- Front
- Back
|
504 PHARM: PHARMACOGENETICS
|
504 PHARM: PHARMACOGENETICS
|
|
|
Phenotyping
|
Measures actual function of the gene.
|
|
|
Genotyping
|
Allele specific PCR, gene chip technology.
Detects only known alleles |
|
|
What are the methods for detecting polymorphism?
|
Phenotyping
Genotyping |
|
|
CYP2D6 Polymorphism
|
Deficiency in cytochrome P450 enzyme (2D6) which can lead to prolonged side effects of drugs.
Many drugs are affected. Results in exaggerated and/or prolonged responses to standard doses of drug. |
|
|
Polymorphism definition
|
Having multiple alleles expressing different phenotypes.
|
|
|
How is CYP2D6 Polymorphism inherited?
|
Inherited as an autosomal recessive trait.
Many mutant alleles are identified. Hard for accurate genotyping. |
|
|
What else can P450 Polymorphism cause?
|
Can cause standard doses of drug to be ineffective.
People with large number of genes need large doses |
|
|
N-Acetylation Polymorphism consists of what deficiency?
|
N-acetyltransferase NAT-2
|
|
|
What type of inheritance is N-acetylation polymorphism?
|
Autosomal recessive inheritance
Large racial differences in distribution |
|
|
Which drugs are affected by N-Acetylation Polymorphism?
|
Arylamines and hydrazines.
Slow acetylation results in increased risk of isoniazide-induced neurotoxicity and increased incidence of drug induced lupus. |
|
|
Malignant hypothermia
|
Example of pharm. polymorphism
1. novel toxic response to halogenated anesthetics, succinylcholine, haloperidol, and tricylic antidepressants. |
|
|
Lacking capacity to contract – Mental incompetent? (2 options)
|
[1] A mental incompetent is a person who is unable to understand in a reasonable manner the nature and consequences of the transaction;
OR [2] is unable to act in a reasonable manner in relation to the transaction and the other party has reason to know of his condition. |
|
|
What type of inheritance is malignant hypothermia?
|
Rare, autosomal dominant
|
|
|
With MH, what is the involved mutated gene?
|
RYR1 gene: altered function of the Ca release channel of SR.
|
|
|
What drug is used of pts with known MH?
|
Propofol
Tx with dantrolene |
|
|
Examples of inborn errors of metabolism causing polymorphisms?
|
1. Glucose-6-phosphate dehydrogenase deficiency
2. UDP-glucuronyltransferase deficiency. |
|
|
G6P Dehydrogenase deficiency
|
Increased sensitivity to hemolysis induced by drugs that are electrophilic.
Hemolysis occurs are readily. |
|
|
UDP-glucuronyltransferase (UGT)
|
Responsible for conjugation of bilirubin.
|
|
|
Deficiency of UGT can be associated with what condition?
|
Crigler-Najjer: results in infant bilirubin encephalopathy.
Can also affect salicylates. |
|
|
What other factors beside genetics can affect drug response?
|
Environment and physiological factors.
|
