From VUS (variance of unknown significance) to diagnosis
3 important questions on From VUS (variance of unknown significance) to diagnosis
Two ways for functionak assay (functional experiments for a genetic disorder)?
- Forward genetics:
- Random mutagenisi
s, if you found the phenotype you go back and look at the genetics.
- Mitosis is a example were it is used
- Reverse genetics:
- You make the phenotype that you want by manipulating (manipulatie) the gene and study the phenotype that is cause by chance.
On what 4 things choose you the mutation you want to make with genetic engineering? (2) (2)
- Exogenous
- manipulation of a gene from outside
- endogenous
- internal/original, bringing in outside/forgein DNA structures in the cell that make the product or manupulate the gene. Most likely stable
- transient
- not permanent
- exogenous
- stable
- permanent
- maintained over generations
IRES or 2A site?
IRES or 2A site (has a startcodon) with this you can make two proteins form one promoter.![]()
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