Download Autosomal Dominance Inheritance

Autosomal Dominance Inheritance
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
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
Paul
Stacy
Key
disease
disease
H = FH disease
h= healthy
healthy
healthy
Hh
hh
Hh
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
(severe)
disease
H = Huntington’s disease
h = healthy
disease
healthy
?
Woody Guthrie:
This Land is Made for You and Me
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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