Molecular Biology: Genetics of Cardiovascular Disease Flashcards

1
Q

What is the threshold model assumption?

  • What type of heart disease can be attributed to this?
A
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2
Q

What is the criteria to define a multifactoral inheritance risk?

A
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3
Q

What is concordance?

  • What is concordant mean?
  • What does discordant mean?
A
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4
Q

CV Conditions

  • What are the 4 HTN genetic disorders and what mutation is each associated with?
A
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5
Q

What are the 2 genetic cardiomyopathies and what genes are associated with them?

A
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6
Q

What are the genes implicated in long QT syndrome?

A
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7
Q

Familial hyperchylomicronemia aka Burger Grutz

  • What inheritance does it display?
  • What molecule decreased?
  • What happens to TAGs?
  • What location has high incidence?
  • What are 2 conditions assoicated with it?
A
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8
Q
  • What are the 3 monogenic disorders of lipoprotein metabolism that ARE NOT recessive?
    • Which one has PCSK9 implicated?
    • Which one has incomplete dominance?
A
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9
Q

Monogenic Disorders of Lipoprotein Metabolism

  • What are the 3 recessive disprders?
  • Which one affects ApoEe4?
  • Which one affects chylomicron remnants?
  • Which one affects ABCA1 protein?
  • Which one has low HDL levels?
  • Which one affects MTTP?
  • Which one affects vitamin absorption?
  • Which one has star shaped RBCs?
A
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