Review Lecture
From Iusmgenetics
- Look over the course objectives
- 4) 4.5 lectures on this objective
- 5) mapping lectures
- 6) dr. quaid's lectures
- 7) and 8) not many lecutres / material on this (clinical correlates)
- Post-midterm
- bulk of questions will come from second half
- Risk question hints
- figure out the pattern of inheritance.
- look at pedigree to understand increased risk because of relatives' disease state
- consider penetrance
- use mendelian methods
- If not at risk b/c of affected relative, use pop genetics
- esp for spouses who marry into a family with recessive trait affected members
- HW
- ar disease incidence = q^2
- ad disease incidence = 2pq
- Is the mutation in myotonic dystrophy CTG or CUG?
- CTG is the sequence of the dna. This part is expanding.
- CUG is the sequence of the RNA. This is the rna that is causing problems.
- Packaging cell lines for gene therapy?
- Cornett's talk
- Take out DNA from the vector so we can put in our therapeutic gene.
- This removes viral genes.
- So how does the cell make virus if the genes are lost in the virus?
- That's what packaging cell lines do; they make the viral particles and inserts the viral genome (with therapeutic insert)
into the viruses.
- Variegate prophyria, an autosomal dominant inborn error of porphyrin biosynthesis can cause issues in many systems.
- Called pleiotropy.
- know the cytogenetics from the first half.
- Expect a clinical correlate question from the DMD talk.
- In the last clinical correlate, the speaker said "silent" mutation but it was "nonsense" as far as we can determine.
- DMD versus Becker
- Dystrophin is a huge protein.
- When frameshift changed, DMD.
- Becker: deletion takes out some multiple of 3, so the result is slightly more functional.
- Spectrin is a domain within dystrophin
- Old exams are worth studying
- Factual info may be different but question types are good examples.
- Triple screening is important
- Don't worry about the timing aspects.
