Mutational Mechanisms, Gene therapy, Genetic Counciling Flashcards
PMP22 deletion causes______
PMP22 duplication causes________
Deletion=Hereditary Neruopathy
Duplication=Charcot Marie Tooth Syndrome (CMT1A)
Sickle cell disease is an example of which type of mutation? GOF, LOF, Novel property, or Altered expression
Novel Property
Which types of Osteogeneis imperfecta are LOF?
Only Type 1.
The others are novel properties
Which disease is associated with a repeat in the 5’ UCR?
Fragile X (loss of function)
Which disease is associated with a repeat in exon?
Huntington’s (novel prop)
Which disease is associated with a repeat in the 3’ UCR?
Myotonic dystrophy1 (novel Prop)
Why would someone use FISH?
To detect specific deletions/duplications that are known/suspected.
It is low resolution meaning it can detect only Large abnormalities.
How does Chromosomal Microarray work?
Its like running tons of FISH on a chip. Test patient DNA against a “normal” DNA. Look for unbalanced color
When to use restriction digest?
When mutation affects endonuclease activity
How do you treat Fabrys and Alpha-1 AT?
Enzyme Replacement
Discuss the pros/cons and safety issues surrounding Retroviral Gene therapy:
RNA Virus
Pros: Integrates into cell genome. minimal immune rxn
Passed on to daughter cells
Cons: Small gene insert size. Only affects dividing cells
Safety:Insertional mutagenesis and germline intgegration
Discuss the pros/cons and safety issues surrounding Adenoviral Gene therapy:
DNA Virus
Pros: Wide variety of cell types. Larger genes.
Cons: Doesnt integrate to genome. Transient expression. Short lived effect.
Safety: Severe immune reactions
Discuss the pros/cons and safety issues surrounding Non-viral Gene therapy:
Pros: insert very large sizes (mini chromosomes)
Minimal immune response
Con: low efficiency, transient expression. Short lived
Safety: Safest? doesnt integrate to genome.
