Exam 1 review

Question 1

PD1 vs PDL1

Answer 1

-PD1 is receptor on T cell
-PDL1 is on cancer cell
-measure PDL1 expression not PD1
-mab drugs

Question 2

PD1 blockers

Answer 2

-Pembrolizumab
-Nivolumab
-Cemiplimab

Question 3

PDL1 blockers

Answer 3

-Atexolizumab
-Avelumab
-Druvalumab

Question 4

Synthetic lethality

Answer 4

-in BRAC loss of function mutation, add PARP inhibitors = no DNA repair
=cancer cells die

Question 5

CDKN2A/B

Answer 5

-tumor suppressors
-when lost, target CDK4 and CDK6

Question 6

CDK4/CDK6 inhibitors

Answer 6

-Palbociclib
-Ribociclib
-Abemaciclib

Question 7

BRAC1 tx

Answer 7

-Olaparib
-Niraparib
-Talazoparib
-Rucaparib

Question 8

KRAS tx

Answer 8

-Binimetinib
-Trametinib
-Cobimetinib

Question 9

AMG 510

Answer 9

-targets ONLY KRAS G-12c

Question 10

RNA interference (ASOs)

Answer 10

-dec mRNA level
=less protein made
-Onpattro for amyloidosis

Question 11

mRNA medicine

Answer 11

-introduce mRNA into body so cells can make proteins
-COVID-19

Question 12

mAB and ADC

Answer 12

-y-shape protein that binds to target protein to block function or help recognize specific group of cells
-PD1 and PDL1 drugs

Question 13

Gene therapy

Answer 13

-vehicle delivers gene
-virus drug Luxtuma for vision loss

Question 14

CRISPR

Answer 14

-gene editing
-also not approved
-blood disorder (B-thalassemia

Question 15

STEM cel (IPSCs) therapy

Answer 15

-not legal yet
-potential to generate any cell types in body to replace damaged tissue

Question 16

PCSK9 and LDL

Answer 16

-PCSK9 mutation is good
-binds to LDLR and uses up receptor (less LDL taken up)
-LDLR recycled in mutations and inhbition

Question 17

mAbs and ADCs produced by

Answer 17

B cells

Question 18

Gene therapy w adeno-associated virus (AAV)

Answer 18

1. transgene packaging into AAV
2. Delivery to body
3. Goes to liver to make protein

-Zolgensma for spinalatrophy

Question 19

CRISPR editing process

Answer 19

-guide molecule finds target strand
-enzyme cuts
-DNA replaced w healthy copy

Question 20

PCR

Answer 20

-amplify DNA
-need DNA template, dNTPs, primers, buffer, DNA polymerase enzyme

Question 21

P value

Answer 21

-P>0.1 no association
-0.05<P<0.1: l little assocition
-P<0.05: sig association
-P<0.01: very sig association

-doesnt measure strength

Question 22

Corrected P-value

Answer 22

5 x 10^-8
-correction for number of SNPs tested to avoid false positive
-GWAS

Question 23

Linkage disequilibrium

Answer 23

-R2 = 0 no LD (far away, not inherited together)
-R2 = 1 Perfect LD (close, inherited)
-R2 >0.8 is significant LD

Question 24

95% CI

Answer 24

-for OR
->1 = risk
-=1 no significance
-<1 no risk/protective

Question 25

DNA chip

Answer 25

-only for KNOWN SNPs -high throughput but cheap

Question 26

Sanger Seq

Answer 26

-KNOWN and UNKNOWN -low throughput -higher cost per BP

Question 27

Next Generation Seq (NGS)

Answer 27

-high throughput -WHOLE genome -higher total cost but low cost per SNP -detects almost everything -seq by synthesis in parallel (does everything at same time)

Question 28

Germline

Answer 28

-inheritable -can pass down

Question 29

Somatic

Answer 29

-aquired -not inheritable -can develop in utero (just early)

Question 30

Does de novo mutation refer to soomatic

Answer 30

-yes

Question 31

MAF

Answer 31

-frequency of T/T + (0.5)T/C to get freq of T allele

Question 32

Types of SNPs

Answer 32

-nonsynonomous -synonomous: no change

Question 33

Nonsynonomous SNPs

Answer 33

-missense (aa sub) -nonsense (aa changes to stop): usually loss of function

Question 34

G681A question

Answer 34

-G is og allele, A is mutation -65% G, 35% A -A is minor allele -loss of function mutation so assume A is worse -A/A would have lowest activity

Question 35

What does PCSK9 protein bind to

Answer 35

-LDL receptor

Question 36

Which P value used to indicated significance

Answer 36

-P<0.5 -P<5 x 10^-8 for GWAS