Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key

image

Play button

image

Play button

image

Progress

1/11

Click to flip

11 Cards in this Set

  • Front
  • Back
LAMC2 mutation is indicative of what disease?
epidermolysis bullosa
sonic hegdehog mutation is indicative of what disease?
hirshprung
What is the percentage of babies born with congenital birth defects?
1-3 %
Which of the following is best to treat genetic disorders?
a)pharmacological intervention
b)substrate limitation
c)product replacement
d)supportive
e)enzyme replacement/gene therapy
d)supportive
What is the form of treatment for a pt with a mutant apoenzyme?
high doses of its vitatmin cofactor (eg. B12)
What enzyme can be give to help increase HbF level in sickle cell anemia?
butyrate
What enzyme therapy can be given to pt with Gaucher's?
glucocerbrosidase
What is the treatment of globoid cell leukodystrophy?
stem cells
Angelman, Prader-Willi, and PKU pts all have lighter complection usually with blonde hair. Why is this?
The chromosomal anomaly is also close to a gene that causes albinism.
Which trisomy causes the most deaths in fetus?
16
Which chromosomal anomoly causes the most deaths in the fetus?
Turner's