Introduction Flashcards

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1
Q

What did CRISPR allow for

A

made it possible to accuratelyately and efficiently edit the human germ line -

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2
Q

Holoprosencephaly (HPE) is a

A

Disorder of the forebrain development, characterized by failure of the brain to separate into hemispheres during early development

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3
Q

HPE has been reported in?

A
humans
cattle
sheep
pigs
monkeys
dogs
horses
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4
Q

HPE factors

A
  • diabetes mellitus in women recognized risk factor
  • teratogens- Ethyl alcohol, retinoids acid, cigarette smoking, steroid alkaloids
  • sheep- ingestion of steroid alkaloids cyclopamine
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5
Q

Mechanism for action of HPE

A

interference with the response to sonic hedgehog (SHH) transcription factors important in ventral patterning of the neural plate

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6
Q

Clinical signs of HPE

A
  • hypernatremia and hyperchloremia
  • electroylte abnormalities (increased thirst
  • ADHD
  • chewing gum fits (oral proprioceptive deficits)
  • seizures
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