Impacts of Genomics on Clinical Medicine Flashcards
Indidence increasing in type 2 diabetes by what factor ?
Industrialized world
Obesity
Estrogen what become high it indicates?
Cancer
Compare between genetic and genomic ?
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
Chronic illness with an array of complicating ?
Microvascular
Macro-vascular
Percentage of identical at the DNA sequence level ?
99.6%
Percentage of the similarity with mouse and chimp?
Mouse 70.90%
Chimp98.5%
Sources of genetic variation ?
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 much human variation differ ?
1/1000 bp
Some genes with positive selection around the time of divergence ?
1 -DYRKIA cognition
2-THADA energy metab
3-NRG3 neurodevelopment
4- several microRNA s
Microarrays Required advances in?
- DNA amplification
- Robotics Microengineering
- Florescent probes
- Bioinformatics / computing
Risk of Breast Cancer in the Population percentage of polygenic risk ?
Top 25% Polygenic Risk
Properties of Next generation Sequencing?
Massive Increase in sequencing capacity
What is the Cytochrome? With example
Responsible for metabolizing nearly 25% of all drugs
CYP2D6
Some CYP2D6 Drugs?
• Beta blockers, eg propanaolol, nifedipine
• Tricylclics antidepressants
• SSRIs (eg paroxetine, fluoxetine) (Selective serotonin reuptake
inhibitors)
• Anti-psychotics (haloperidol, risperidone, thioridazine)
• others: Codeine, Amphetamine, Tamoxifen
Metastatic esophageal cancer because of mutation in ?
bar abl kinase gene