Pharmacogenomics Midterm Flashcards
What is a missense SNP?
amino acid substitution (either gain-of-function or loss-of-function)
What is a nonsense SNP?
amino acid changes to a stop codon (loss-of-function)
What is the Start Codon?
ATG
What is the Stop Codon?
UAA, UAG, UGA
What does a R2 of 1 mean for LD?
no recombination =complete/perfect LD
What does a R2 of 0 mean for LD?
infinite recombination = no LD
What are the substrates for Polymerase Chain Reaction(s)?
-DNA template
-dNTPs (dATP, dGTP, dCTP, dTTP)
-Primers: 2 short sequences specific to the region of interest
-Buffer: pH, Mg+2
-Enzyme: Taq DNA polymerase
What are the 95% Confidence Interval values?
greater than 1 = significant risk effect
contains 1 = no statistical significant
less than 1 = significant protective effect
What can DNA chips detect?
-detecting known SNPs or targeted SNPs
-high throughput, medium cost (low per SNP cost)
What can Sanger Sequencing detect?
-can detect both known and unknown alleles
-low throughput, higher cost per base pair
What can Next Generation Sequencing detect?
-whole genome/exome sequencing; detects all known or unknown alleles
-High throughput
-Higher total cost; very low cost per SNP
What do antisense oligonucleotides (RNA interference) do?
reduces mRNA level so therefore less protein will be made
-useful for gain-of-function mutations
-example: Onpattro (patisiran)
What does mRNA medicine do?
introduces exogeneous mRNA into the body, so cells can make proteins that are based on that mRNA that was introduced
-example: COVID-19 Vaccine
What are Monoclonal Antibodies?
a type of Y-shaped protein that binds to a target protein to block the function of the target or to help recognize a specific group of cells that express the target protein
-example: PD1 and PD-L1 drugs
What is Gene Therapy?
Uses a virus as a vehicle to deliver a gene
-example: adeno-associated virus Luxturna, ZOLGENSMA for SMA
What are Stem cell (iPSCs) therapy?
potentially able to generate any cell type in the body to replace damaged tissue
What are the PD-1 blockers?
Pembrolizumab (Keytruda); Nivolumab (Opdivo); Cemiplimab (Libtayo)
What are the PD-L1 blockers?
Atezolizumab (Tecentriq); Avelumab (Bavencio); Duvalumab (Imflinzi)
What is the difference between PD-1 and PD-L1?
PD-1 is found on T Cells
PD-L1 is found on cancer cells/APCs
How does the KRAS^G12C inhibitor work?
AMG 510 is a small molecule that binds to KRASG12C and irreversibly inhibits it by locking it in an inactive GDP-bound state
What are the CDK4 and CDK6 inhibitor drugs?
-Palbociclib, Ribociclib (Kisqali), Abemaciclib
What are the Ribociclib + Binimetininib trials promising?
-promising regimen
-for melanoma patients with NRAS mutation
-0 complete response, some partial response and stable disease, a few progressive diseases
