1. Autosomal Dominance Inheritance

2. What’s an Autosome? Autosome: Non sex chromosome
Ex: Autosomal disorders: gene for the disease is found on chromosomes 1-22
Autosomal Recessive Inheritance
Must inherit two copies of the disorder to be affected
Healthy is dominant (HH or Hh)
Disease is recessive (hh)
Ex: Cystic fibrosis, PKU, Albinism, Sickle cell anemia
Autosomal Dominance Inheritance
Only need to inherit one copy of the disorder to be affected
Disease is dominant (HH or Hh)
Healthy is recessive (hh)
Ex: Familial hypercholesterolemia (also called FH), Huntington’s disease, Neurofibromatosis

3. Autosomal Dominance Inheritance
Disease is dominant (HH or Hh)
Homozygous dominant: early death and don’t survive to reproduce
Heterozygous live into adulthood
Healthy is recessive (hh)
ex: Paul has familial hypercholesterolemia and Stacy is healthy. The two have 3 children. After testing, the middle child is the only healthy child. Hh hh h h
Paul
Stacy H h H h
Key
H = FH disease
h= healthy H
disease
disease Hh hh Hh h h h h h
healthy
healthy

4. Autosomal Dominance Inheritance
Huntington’s disease is a dominant disorder found on chromosome 4. Betty and Marcus met at a support clinic they have been attending to help them cope with the knowledge of their illness with Huntington’s disease. They would like to know the risk of having a healthy child, now that Betty is pregnant. Hh Hh H h
Marcus
Betty H H H h
Key
H = Huntington’s disease
h = healthy H
Disease (severe)
disease ? H h h h h
disease
healthy

5. Woody Guthrie: This Land is Made for You and Me

6. Video about Huntington's disease
Autosomal dominant disorder
Brain cells start to die in late 30’s
Causes uncontrollable muscle jerking
Death usually in 40’s-50’s
No treatments
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