Autosomal Dominant

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

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

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?