Autosomal Dominant



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tarix01.04.2017
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Autosomal Dominant

  • Autosomal Dominant

    • On the tip of the short arm of chromosome 4
    • One bad gene causes disease (dominant)
    • Brain degeneration over 10-15 years until death


Autosomal Dominant

  • Autosomal Dominant

    • On the tip of the short arm of chromosome 4
    • One bad gene causes disease (dominant)
    • Brain degeneration over 10-15 years until death
  • Neurodegenerative disease



Autosomal Dominant

  • Autosomal Dominant

    • On the tip of the short arm of chromosome 4
    • One bad gene causes disease (dominant)
    • Brain degeneration over 10-15 years until death
  • Neurodegenerative disease

    • Loss of movement control
    • Loss of cognitive skills (dementia) and hallucinations
    • Depression, hostility, aggression and loss of inhibitions
  • Dyskinesias

    • Chorea: uncontrollable tics and involuntary movements of extremities, hyperkinesias
    • Dystonia uncontrollable muscle contractions
    • Dysphagia (difficulty in swallowing) and uncontrollable oral buccal dyskinesia
    • Bradykinesia, slow uncertain movements


You are 20 years old.

  • You are 20 years old.

  • Your father abandoned you and your mother when you only 2 years old.

  • Your father died this year and left you an inheritance.

  • He died from an autosomal dominant disease known as Huntington’s Chorea or Huntington’s Disease.

  • You have a 50% chance of inheriting this invariably fatal neurodegenerative disease.

  • But there is a genetic test for this disease that can tell you not only if you have the disease, and if you do, when you will die from it.

  • Would you take the genetic test or not?

  • Why?





























































Crossing over between maternal and paternal chromosomes

  • Crossing over between maternal and paternal chromosomes

  • Unequal crossing over between maternal and paternal chromosomes













Autosomal (chromosome 7q31.2) recessive.

  • Autosomal (chromosome 7q31.2) recessive.

  • Inhibits many bodily secretions

    • Pancreatic digestive enzymes
    • Sweat glands
    • Lung mucosa in alveoli and bronchi
    • Infertility in males (>97%)
    • Cirrhosis of the liver
    • Hepatic steatosis
  • Caused by mutations in the CFTR gene that encodes a chloride ion channel that pumps Chloride ion and water out of cells.















Revere La Noue, MFA, Stanford, 2005

  • Revere La Noue, MFA, Stanford, 2005

  • What is this film about?

  • What classes of glitches are mentioned?

  • What do these glitches cause?

  • Why did I show this film?




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