Impacts of Genomics on Clinical Medicine Flashcards

1
Q

Indidence increasing in type 2 diabetes by what factor ?

A

Industrialized world

Obesity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Estrogen what become high it indicates?

A

Cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Compare between genetic and genomic ?

A

Genetic vs Genomic
An effect that is significant enough to interpret by itself

Mutation
Pathological
Unique or rare

An effect that can omnly be interpreted correctly in the context other similar variants

Variant or polymorphism
Normal
Commo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Chronic illness with an array of complicating ?

A

Microvascular

Macro-vascular

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Percentage of identical at the DNA sequence level ?

A

99.6%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Percentage of the similarity with mouse and chimp?

A

Mouse 70.90%

Chimp98.5%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Sources of genetic variation ?

A

1-Insertion /deletion indels
2-Length polymorphism STRp

3-Single nucleotide polymorphism SNPs the high 45%

4-Copy number variants CNVs

5-Inversions

6-Recombination

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How much human variation differ ?

A

1/1000 bp

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Some genes with positive selection around the time of divergence ?

A

1 -DYRKIA cognition
2-THADA energy metab
3-NRG3 neurodevelopment
4- several microRNA s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Microarrays Required advances in?

A
  • DNA amplification
  • Robotics Microengineering
  • Florescent probes
  • Bioinformatics / computing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Risk of Breast Cancer in the Population percentage of polygenic risk ?

A

Top 25% Polygenic Risk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Properties of Next generation Sequencing?

A

Massive Increase in sequencing capacity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the Cytochrome? With example

A

Responsible for metabolizing nearly 25% of all drugs

CYP2D6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Some CYP2D6 Drugs?

A

• Beta blockers, eg propanaolol, nifedipine
• Tricylclics antidepressants
• SSRIs (eg paroxetine, fluoxetine) (Selective serotonin reuptake
inhibitors)
• Anti-psychotics (haloperidol, risperidone, thioridazine)
• others: Codeine, Amphetamine, Tamoxifen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Metastatic esophageal cancer because of mutation in ?

A

bar abl kinase gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Treatment of Metastatic esophageal cancer by ?

A

Imatinib

17
Q

Toungue adenocarcinoma treats by ?

A

RET