14 - Medical Genetics Flashcards

1
Q

To know

A
  1. Mutations: Types, somatic/germline/phenotypic consequences (gain/loss of function)
  2. MAKE a pedigree
  3. Inheritance patterns for single gene disorders
  4. Calculate risk based on a pedigree analysis
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2
Q

What facilitates genetic discovery and therapy?

A

Technologies

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3
Q

What genetically determined diseases do I have to know

A

Single gene disorders
chromosomal
multifactorial
somatic

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