14 - Medical Genetics Flashcards
1
Q
To know
A
- Mutations: Types, somatic/germline/phenotypic consequences (gain/loss of function)
- MAKE a pedigree
- Inheritance patterns for single gene disorders
- Calculate risk based on a pedigree analysis
2
Q
What facilitates genetic discovery and therapy?
A
Technologies
3
Q
What genetically determined diseases do I have to know
A
Single gene disorders
chromosomal
multifactorial
somatic