Identifying the disease gene in human monogenic disorders
4 important questions on Identifying the disease gene in human monogenic disorders
What are multifactorial diseases?
- Each mutation has small effect on disease risk
- every person has different combination of sussceptibillity.
- selection against variants is weak
- variants can become common
- genes
- environment
- epi-genetic
What are monogenic diseases?
- Mutation have a strong effect om disease risk (high penetrance)
- selction against mutations often strong
- mutations therefore rare in population
Threshold model for multifactorial disorders, what does it say?
- Gives you information on when you get the disease
- you need a high number of risk factors to get the disease
- gives the liability (betrouwbaarheid)
- the threshold z is the biological limit past which disease develops
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What says the continuous risk model?
- how more genetic risk variants there are the more the risk there is to get the dise
ase
The question on the page originate from the summary of the following study material:
- A unique study and practice tool
- Never study anything twice again
- Get the grades you hope for
- 100% sure, 100% understanding
