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

2. 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

3. 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

4. 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

5. 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

6. 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

7. 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

8. 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

9. 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

10. 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

11. 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

12. 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

13. 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

14. 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

15. 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?