2. Autosomal Dominance Inheritance

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

4. Autosomal Dominance Inheritance Disease is dominant (FF or Ff) –H–Homozygous dominant: early death and don’t survive to reproduce –H–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. Key F = FH disease f = healthy disease healthy PaulStacy Ff ff

5. 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. Key H = Huntington’s disease h = healthy diseasedisease diseasehealthy ? MarcusBetty Hh