MT

Question 1

What are the 4 “rights” of personalzied medicine?

Answer 1

Right pt
Right drug
Right time
Right dose

Question 2

Benefits of personalized medicine?

Answer 2

More accurate dosing
optimal treatment option
increased saftey
reduced AE’s
faster to a cure
increased efficacy of HC system
Reduce ineffective therapies

Question 3

Challenges of personalized medicine?

Answer 3

Pt engagement
Pt privacy
evidence collection
data ownership and management
Cost

Question 4

What enzyme converts tamoxifen to endoxifen (active metabolite)?
Who is this likely to be less effective in?

Answer 4

CYP2D6
Efficacy likely low in european population b/c 6-10% are deficient in CYP2D6

Question 5

how many cells in human body?

Answer 5

30-40 trillion

Question 6

Which cell type cannot regenerate?

Answer 6

neurons

Question 7

G1 phase?

Answer 7

cell grows and prepares for DNA replication

Question 8

S phase?

Answer 8

DNA replication

Question 9

G2 phase?

Answer 9

cell continues to grow and prepare for mitosis

Question 10

M phase?

Answer 10

cell stops growth and starts to divide

Question 11

G0 phase?

Answer 11

cell has left the cell cycle and stopped dividing

Question 12

When are the 2 checkpoints? what happens if anything is wrong?

Answer 12

G1 checkpoitn: DNA synthesis
G2 checkpoint: prepartation for mitosis
Apoptosis occurs if anything is wrong

Question 13

When do you need growth factors up until?

Answer 13

R (restriction point) afterwards cell commits to cycle for division and does not require futher growth factor stimulation

Question 14

how many chromosomes in human body?

Answer 14

23 pairs (46)

Question 15

Describe DNA structure

Answer 15

linear, double stranded

Question 16

What % of chromosomes code for genes?

Answer 16

~10%

Question 17

What does Histone H1 act as?

Answer 17

a lock for DNA on the histone core

Question 18

Structure of of the core histones?

Answer 18

octamer; (H2A, H2B, H3, and H4) x2

Question 19

DNA Nucleotide pairs?

Answer 19

A-T
G-C

Question 20

mRNA nucleotide pairs?

Answer 20

A-U
G-C

Question 21

When is a mutation less likely to code for a different amino acid?

Answer 21

if it is in the last letter in the 3 code sequence

Question 22

What does a transciption of a gene lead to?

Answer 22

mRNA

Question 23

What does a translation of a gene lead to?

Answer 23

protein

Question 24

Where are promoters typically located?

Answer 24

upstream of genes

Question 25

What is the function of promoters?

Answer 25

RNA polymerase binding site, direct exact place to initiate DNA transcription

Question 26

what is ENCODE?

Answer 26

encyclopedia of DNA elements

Question 27

most common variation in human genome?

Answer 27

SNPs (single nucleotide polymorphisms)

Question 28

What is an SNP?

Answer 28

small stretches of DNA that differ in only one base

Question 29

what happens when an SNP occurs in the regulatroy area of a gene?

Answer 29

chagnes expression level

Question 30

what happens if an SNP occurs in the coding area of a gene?

Answer 30

change in protein structure, potential change in function

Question 31

What are CNVs (copy number variations) a source of?

Answer 31

genetic diversity

Question 32

What are the predominant mechanisms of genome evolution?

Answer 32

exon shuffling and gene duplication

Question 33

is mutation always bad?

Answer 33

no

Question 34

What are some CNV associated diseases?

Answer 34

Cancer (TP53) autism lupus autoimmune disorders stroke

Question 35

Which CNV diseases can be treated w/ gene therapy?

Answer 35

those caused by less of a gene

Question 36

What are INDELs? what do they do?

Answer 36

insertion or deletion of small pieces of DNA Cause frame shifting --> likely major impact on humans health and disease suceptibility

Question 37

Insertion or deletion of a single base pair effect?

Answer 37

cause a frame shift downstream

Question 38

Expansion by only one base pair (monomeruc base pair expansion) effect?

Answer 38

protein strucure altered

Question 39

Transposon insertions effect?

Answer 39

provides possibility of new gene/ new protein

Question 40

What INDEL occurs in cystic fibrosis?

Answer 40

three-base pair deletion in CFTR gene

Question 41

INDEL in huntingtons disease?

Answer 41

triplet repeat expansions CAG repeats in HTT gene

Question 42

INDEL in breast cancer?

Answer 42

6.2kb deletion of BRCA2 gene

Question 43

What happens in philidelphia chromosome?

Answer 43

translocation of chromosome 9 and 22 creating BCR-ABL gene leading to acute lymphocytic leukemia, and chronic myeloid leukemia

Question 44

What are "omics" the key for?

Answer 44

stratifying pts and finding new targets