Pharmacogenomics Flashcards
- What is pharmacogenetics❓
2. What is pharmagenomics❓
- Study of individual gene-drug interactions
- Study of genomic influence on drug response
The human genome project was a research program for mapping and understanding of all the genes in human beings.
When did it begin❓
When was it completed❓
How many genes were discovered❓
1984
2003
20,500 genes
If humans are 99.9% identical at the DNA level, what influences the differences in appearance/behavior/response to medications❓
The 0.1% difference is responsible about 3,000,000 specific DNA differences btwn pple
What are mutations❓
What is the normal codon for:
- Methionine
- Valine
- Leucine
- Serine
- Proline
- Tyrosine
Changes in DNA
- ATG
- GTG
- CTG
- TCT
- CCT
- ACT
What would you observe with administration of suxamethonium to a patient deficient in serum pseudocholinesterase❓
What is the rate of prevalence of this deficiency❓
Prolonged respiratory paralysis
1 in 2000 caucasians
What would you observe with administration of an anti-malaria to a patient deficient in G6PD❓
What is the rate of prevalence of this deficiency❓
Hemolysis of RBC (anemia)
1 in 100 African American
What enzyme is probably deficient in a pt that presents with bone marrow toxicity from administration of thiopurine/mercaptopurine❓
Thiopurine methyl transferase (TPMT)
- 70% -High expression
- 20% -Medium
- 2% -Low
- A deficiency in N-acetylase (NAT2) transferase will lead to a slow inactivation of which drugs❓
- What is the rate of prevalence of this deficiency….
a) Caucasians
b) Africans
- Isoniazid
Dapsone
2.
a. 45-65%
b. 10-15%
ADRs rank as the fourth leading cause of death (40,000-100,000 per year)
True or false
True
Drugs have a patent life of about 20 years
True or false❓
True
Cytochrome P450 is a family of isozymes that bio transform several drugs.
How many genes code for it❓
Divided among how families❓
Which are responsible for metabolizing most clinically important drugs❓
57 genes
18 families
CYP 2A6
CYP 2B6
CYP 2C9
CYP 2C19
CYP 2D6
CYP 2E1
CYP 3A4
What is the function of CYP1❓
How many subfamilies does it have❓
How many genes does it have❓
Drugs metab
Steroid (esp. estrogen) metab
2 subfamilies
3 genes
What is the function of CYP2❓
How many subfamilies does it have❓
How many genes does it have❓
Drug and steroid metab
13 subfamilies
16 genes
What is the function of CYP3❓
How many subfamilies does it have❓
How many genes does it have❓
Drug and steroid (+testosterone) metab
1 subfamily
4 genes
The CYP enzyme, 1A1, is responsible for the metabolism of which drugs❓
Caffeine
Testosterone
R-Warfarin