Pharmacogenetics Flashcards
Interindividual variability factors
Environmental
pollutants
ethnicity
Different cross interactions
Drug-Gene
Gene-Environment
Environment-Drug
Pharmacogenetics Def
The study of the effect of variations in DNA sequence on drug response in terms of both the metabolism/clearance and action of the drug delivered
Pharmacogenetics vs pharmacogenomics
Genetics is worried about how one gene effects a drugs
genomics covers the entire genome on drug response
synonymous polymorph
In a coding section but doesn’t change the end AA
Non-synonymous polymorph
in a coding section and does change the end AA
Missense polymorph
Non-synonymous mutation that causes a change in the AA
Nonsense polymorph
Non-synonymous mutation that causes a premature stop codon
Probe drug
drug used to determine a enzymes function as it is only metabolized by that enzyme
Dextromethorphan probe
used to test CYP2D6
High DM:DX is a slow metabolizer
Low DM:DX is a fast metabolizer
ABC family transporters
These are Efflux transporters can aid in chemo resistance and other drug resistance if low amounts are present
Solute carrier family transporters (SLC
These are influx transporters
contains
OAT anionic
OATP anionic polypeptides
OCT cationic
inherited testing
When we want to know exact familiar variant and more than one variant is associated with issue
Tumor testing
strategy depends on the goal for diagnostic, prognosis or treatment
Single gene sequencing
can use Sanger or next ten sequencing
-use: mutation is not known and one gene is under investigation
don’t: mutation is not known, more than one gene could be associated, history suggests more than one inherited syndrome
CNV or deletion/duplication analysis
Attaches florescent tag to DNA sequence
use: del/dup are common mutations for condition, single gene test was negative but likely hood is high
Don’t: mutation doesn’t involve CNV, more than one hereditary syndrome
Targeted mutation analysis
attaches probe to the known mutated nucleotides
use: mutation is known, can be looking at many sites with similar mutation
Multi gene panels
Uses next gen to look at many sites
use: mutation is unknown, many sites like to have mutation, many hereditary syndromes likely
don’t: mutation is known, only one gene linked to disease
Whole genome/exome sequencing
Everything is looked at
Use: when all else fails but hereditary likely, need a family member to take it too
Don’t: other targeted option is better, family is not available
Thalassemia
genetic disease affecting hemoglobin production
Cystic fibrosis
genetic disease that causes think mucus build up everywhere
