6. Neurogenetics Flashcards
What do gene association studies look for? (Neurogenetics B&B)
Sorting of SNP’s
What is an SNP? (Neurogenetics B&B)
- Single nucleotide polymorphism
- Natural variations in our DNA
- Identified by human genome project sequence
What is cortical atrophy? (Neurogenetics B&B)
- Variant of Alzheimers disease
- Affects frontal, temporal and parietal lobes
- Accumulation of amyloid plaque on the cell soma
What causes the familiar form (early onset) of Alzheimers disease? (Neurogenetics B&B)
- Mutated amyloid precursor protein results in more production of β amyloid
- Unable to break down (possible in healthy P’s)
- Occurs on chromosome 21
What causes the unfamiliar form (genetic risk factors) of Alzheimers disease? (Neurogenetics B&B)
- E4 allele present in 15% of healthy, and 60% of Alzheimers brains
- APoE polymorphism changes the amino acid, creating an alternative structure
What are inbred mice and what are they used for? (Neurogenetics B&B)
- Alternative genetics, neurobiology and behaviour
- Comparing these to healthy mice can allow for the effects of gene changes to be seen
What is shown with gene replacement mice? (Neurogenetics B&B)
Only mutant gene is active
What is shown with gene knock out mice? (Neurogenetics B&B)
No active gene present
What is shown with gene addition mice? (Neurogenetics B&B)
Both genes are active
What are global knockouts? (Neurogenetics B&B)
The production of the protein is missing throughout the brain
What are conditional knockouts? (Neurogenetics B&B)
Production of the protein is missing from a specific region of the brain
What are inducible knockouts? (Neurogenetics B&B)
Protein production is controlled by drug treatment