Woody Guthrie: This Land is Made for You and Me

Autosomal Dominance Inheritance Disorder Autosomal Dominance Inheritance Healthy Key D = autosomal dominant disorder d = healthy allele Dd dd There are four possible allele combinations that their children may inherit D d

Autosomal Dominance Inheritance Disorder Autosomal Dominance Inheritance Healthy Key D = autosomal dominant disorder d = healthy allele Dd dd There are four possible allele combinations that their children may inherit D d d d

Autosomal Dominance Inheritance Disorder Autosomal Dominance Inheritance Healthy Key D = autosomal dominant disorder d = healthy allele Dd dd There are four possible allele combinations that their children may inherit D d d d D d

Autosomal Dominance Inheritance Disorder Autosomal Dominance Inheritance Healthy Key D = autosomal dominant disorder d = healthy allele Dd dd There are four possible allele combinations that their children may inherit Disorder Disorder D d d d D d d d

What’s an Autosome? H H healthy Autosome: Non sex chromosome (#1-22) Ex: Autosomal disorders: gene for the disease is found on an autosome Autosomal Recessive Inheritance Must inherit two copies of the disorder to be affected 4 5 1 2 3 6 7 8 9 10 11 12 13 14 16 17 18 15 H H 19 20 21 22 Key H = healthy h = disorder healthy

What’s an Autosome? H h healthy Autosome: Non sex chromosome (#1-22) Ex: Autosomal disorders: gene for the disease is found on an autosome Autosomal Recessive Inheritance Must inherit two copies of the disorder to be affected 4 5 1 2 3 6 7 8 9 10 11 12 13 14 16 17 18 15 H h 19 20 21 22 Key H = healthy h = disorder healthy

What’s an Autosome? h h disorder Autosome: Non sex chromosome (#1-22) Ex: Autosomal disorders: gene for the disease is found on an autosome 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 Ex: Phenylketonuria (PKU) Ex: Sickle cell disease 4 5 1 2 3 6 7 8 9 10 11 12 13 14 16 17 18 15 h h 19 20 21 22 Sex-linked: Hemophilia Key H = healthy h = disorder disorder

What’s an Autosome? H H disorder Autosome: Non sex chromosome (#1-22) Ex: Autosomal disorders: gene for the disease is found on an autosome Autosomal Recessive Inheritance Must inherit two copies of the disorder to be affected Healthy is dominant (HH or Hh) Disease is recessive (hh) 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) 4 5 1 2 3 6 7 8 9 10 11 12 13 14 16 17 18 15 19 20 21 22 H H Key H = Disorder h = healthy disorder

What’s an Autosome? H h disorder Autosome: Non sex chromosome (#1-22) Ex: Autosomal disorders: gene for the disease is found on an autosome Autosomal Recessive Inheritance Must inherit two copies of the disorder to be affected Healthy is dominant (HH or Hh) Disease is recessive (hh) 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) 4 5 1 2 3 6 7 8 9 10 11 12 13 14 16 17 18 15 19 20 21 22 H h Key H = Disorder h = healthy disorder

What’s an Autosome? h h Folk Singer Woody Guthrie healthy Autosome: Non sex chromosome (#1-22) Ex: Autosomal disorders: gene for the disease is found on an autosome Autosomal Recessive Inheritance Must inherit two copies of the disorder to be affected Healthy is dominant (HH or Hh) Disease is recessive (hh) 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: Huntington’s disease (HD) 4 5 1 2 3 Folk Singer Woody Guthrie Ex: Neurofibromatosis 6 7 8 9 10 11 12 Ex: Familial hypercholesterolemia (FH) 13 14 16 17 18 15 19 20 21 22 h h Key H = Disorder h = healthy healthy

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

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

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

Quiz How are autosomal dominant disorders different from autsomal recessive disorders? What are the possible genotypes of someone with an autosomal dominant disorder? In all likelihood, what is the genotype of an adult with an autosomal dominant disorder? Complete a pedigree from the following story: Jerome is concerned about Huntington’s disease (HD) since his father recently passed away due to the disorder. After a gene test, he is found not to have the HD gene. He marries Raquel and they are now preparing for this first child. What is the likelihood of the child having HD if Raquel is healthy? What is the likelihood of the child having HD if Raquel has HD?