PGX (Genetics) Flashcards
DNA
- Bases
- How many chromosomes
ATGC bases
22 Pairs of Autosomes
1 Pair of Sex Chromosomes
DNA
- Location
- Structure
Long molecule
Located in nucleus, packed into thread structures called chromosomes
Function of Genes
Carries genetic info from one generation to the next
Coding vs Non-Coding Genes
Non-Coding (98-99%) - Introns
- Regulates process of gene translation into proteins
Coding (1-2%) - Exons
- Contains blueprinds that encode for proteins
Transcription
DNA –> mRNA
Introns are removed and exons are spliced together
Translation
mRNA is read and translated into amino acid sequence (protein)
mRNA to Protein Process
- mRNA moves from nucleus to cytoplasm
- mRNA attaches to ribosomes
- Ribosomes call for transfer RNA
- tRNA returns codon to original form
- Codons encode for amino acids
Coding Strand
Coding Strand = mRNA (U instead of T)
Template Strand
Opposite of Template Strand = mRNA (U instead of T)
SNP
Single Nucleotide Polymorphism
- 1-2% of the population
Groups usually share polymorphism (SNP)
Where are SNP
Can be found in coding or non coding regions
Synonymous Mutation
Polymorphism Location
- Coding Area
Polymorphism Function
- No Consequence
Non-Synonymous
Polymorphism Location
- Coding Area
Polymorphism Function
- Yes Consequence
Missense
- Different a.a. is coded causing a slight change in functionality
Nonsense
- Premature stop resulting in protein affecting functionality
Silent
Polymorphism Location
- Non-Coding Area
Polymorphism Function
- No Consequence
Polymorphism Location
- Non-Coding Area
Polymorphism Function
- Consequences
Transcription
Splicing
Poor Metabolizer
Little to no metabolism
- Responds poorly or not at all to drugs therapeutic effects
- Significant side effects
Intermediate Metabolizer
Slower rate metabolism
Gains little benefit from drug
Side effects not as severe as poor metabolizer
Extensive Metabolizer
AKA Normal Metabolizer
Average expected range of metabolism
- Few or no side effects (Low risk)
-Gains benefit from drug (Higher chance)
Ultrarapid Metabolizer
AKA Rapid Metabolizer
Metabolizes drugs too fast for therapeutic effect
Increased risk of adverse drug reaction
Virtually no benefit from drug
Metabolism (Normal Drug)
- PM
- Given Drug
- Body is slow to break it down
- Drug accumulates
- Side Effects / Drug Overdose
Metabolism (Normal Drug)
- UM
- Given Drug
- Body is fast to break it down
- Little to no drug left
- Little therapeutic effect
Metabolism (Pro Drug)
- IM
- Given Drug
- Body does not convert prodrug to drug
- Low bioavailability of active drug
- No therapeutic effect
Metabolism (Prodrug)
- UM
- Given Drug
- Body convert prodrug to drug at an accelerated rate
- Too much active drug present
- Overdose / Adverse Drug Reaction
