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Pharm 225 > Pharmacogenomics > Flashcards

Pharmacogenomics Flashcards

1
Q

Who is the father of medicine?

A

hippocrates

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2
Q

What are the four rights?

A

right patient, drug, time , dose

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3
Q

How many cells in human body?

A

30-40 trillion

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4
Q

How many cells die each day?

A

100 billion

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5
Q

What are the cell cycle stages?

A

G1- grows and prepare for DNA rep
S- DNA rep
G2- grow and prepare for mitosis
M-mitosis
G0- left cycle to function

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6
Q

Where are the checkpoints/

A

G1 and G2

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7
Q

Where is the restriction point?

A

G1, before S phase

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8
Q

What is a checkpoint in mitosis?

A

anaphase checkpoint

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9
Q

How does the anaphase checkpoint work?

A

if not attached to spindle it blocks anaphase

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10
Q

What percent of genome codes for genes?

A

10%

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11
Q

How many genes in one chromosome, how many base pairs?

A

2500-5000 genes
130 million base pairs

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12
Q

What is the structure of a chromosome?

A

2 of H2A,H2B,H3,H4 and one H1

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13
Q

What does H1 do?

A

clips

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14
Q

WHat is size of mature mRNA from the gene?

A

10%

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15
Q

What is transcription?

A

gene to RNA

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16
Q

What is translation?

A

RNA to protein

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17
Q

Where are promoters found? How can we innactivate them?

A

upstream
innactivate by methylation

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18
Q

How many base pairs in genome?

A

3 billion

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19
Q

What is ENCODE?

A

annotation of DNA elements

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20
Q

What are comparative genomics?

A

compare between species

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21
Q

What are functional genomics?

A

the function of it

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22
Q

What are structural genomics?

A

structure of proteins encoded by genome

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23
Q

What is genetic mosaicism?

A

DNA mutation

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24
Q

What are the 4 essential parts of genomic studies?

A

Variations
expressions
regulations
correlations

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25
What is the most common type of variation?
SNP
26
What is the frequency of SNP?
1 in 1000
27
How many coding SNPs are there?
5 coding SNPs
28
How many SNPs between 2 people?
3 billion/1250
29
What are CNVs? What causes it?
change in copies of gene Recombination causes it
30
What are examples of INDEL?
CF= deletion of CFTR gene Huntington- repeat exampsion Breast cancer- deletion of BRCA
31
How many loci in genome?
255
32
What is a common spot for structural variation?
short arm of chromosome 1
33
What is the philadelphia chromosome?
translocation of 9 and 22 makes BCR ABLE gene for cancer
34
What is genetics vs genomics?
Genome= all, and their function
35
Explain the pharmacgenomics of tamoxifen?
Needs CYP 2D6 to become active highly variational
36
What enzyme metabolizes the msot amount of drugs?
CYP 3A4
37
Example of pharmacogenomics with phenytoin?
CYP 2C9 variants= poor clearance most common in asian
38
What do you do if hydrocodone and one copy of the CYP 3A4 copy is decreased and no CYP 2D6?
can get normal metabolism still with 3A4
39
What are the four P's of medicine?
predictive preventative personalized participatory
40
What is cost for whole genome sequenced, What about just exons?
1000-3000$ 1000-2000
41
What is a biochip?
array of biomolecules immobilized on surface
42
What is PharmGKB?
annotating drug labels containing pharmacogenomic information
43
What is DMD gene?
largest gene with potenitla large deletions x linked= more in males
44
What is eteplirsen for?
skip exon 51 for DMD shortened DMD will have 50% function
45
What is BRCA biomarker for?
breast and ovarian cancer
46
What is the drug vitrakvi (larotrectinib)?
1st drug targeting genetic mutation in cancer for NTRK
47
How are SNPs related to vitamin D and breast cancer risk?
if heterzygous for one SNP= low risk of BC
48
Explain pharmacogenomics and warfarin?
CYP 2C9= lots of variation= may need to adjust dose
49
What is the accuracy of CNVnator?
very accurate and highly sensitive
50
If a patient has null copies what does this mean?
neither copy works
51
What are some gene expression profiling tech?
microarray, DEG, SEG, RNA splicing, biopsy, SAGE
52
What is the rate of approved personalized medicine drugs?
1/4
53
What therapuetic areas are high demand areas for personalized medicine?
Oncology
54
WHat does biomarker Her2 mean?
breast cancer
55
What is use of imatinib?
stop BCR ABLE TK= apoptosis
56
What is treatment for stage 2 Breast Cancer?
surgery radiatoin- for lymph nodes chemo- adjunct
56
What is treatment fo stage 1 breast cancer?
surgery radiation hormonal therapy chemo targeted- for HER 2 + and high recurrance rates
57
Examples of treatment for stage 2 chemo?
AC-T T-AC CAF
58
What is treatment of stage 3?
cehmotherapy- adjunct Targeted surgery radiation- after breast conserving surgery
59
Treatment of stage 4 breast cancer?
hormonal chemo
60
What is luminal A?
ER+ HER2-
61
What is luminal B?
ER+ HER2+
62
What is HER2?
ER- PR- HER2+
63
What is triple negative?
ER- PR- HER2- poorest prognosis
64
How does regulation of cell cycle in ER+ cancer?
stop production of ER and stop binding
65
What is palbociclib?
first CDK4/6 inhibitor block phosphorylation of Rb= prevent cancer from passing r point= cant divide
66
How does trastuzumab work?
domain 4 of HER2= slow tumour growth
67
How does pertuzumab work?
domain 2 = blocks dimerization= decreases cell growth
68
What is T-DM1?
trastuzumab and emtansine emtansine= cytotoxic for metastatic cancer
69
What is lapatinib?
dual TK inhibitor that REVERSIBLY bind to EGFR and HER2= stop proliferation and growth
70
What is gefitinib?
inhibitor of EGFR= stops proliferation and synthesis
71
What is cetuxumab?
MAB against EGFR= head neck and colorectal cancer
72

Pharm 225 (3 decks)

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