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Autosomal Dominance Inheritance What’s an Autosome? • Autosome: refers to chromosomes 1-22 – 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 Autosomal Dominance Inheritance • Disease is dominant (FF or Ff) – Homozygous dominant: early death and don’t survive to reproduce – Heterozygous live into adulthood • Healthy is recessive (ff) • ex: Paul has familial hypercholesterolemia and Stacy is healthy. The two have 3 children. After testing, the middle child is the only healthy child. Ff ff Paul Stacy Key disease disease F = FH disease f = healthy healthy healthy Ff ff Ff 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 Marcus Betty Key disease disease H = Huntington’s disease h = healthy disease healthy ?