Lecture 7 Flashcards
Examples of Autosomal Dominant
Huntington’s Disease, Marfan Syndrome
What does Huntington’s disease affect?
muscle coordination and leads to cognitive decline and dementia- affects caudate nucleus and basal ganglia (neurons undergo degeneration)
Where is HUntington’s Disease common?
people of Western European descent
WHere is gene for Huntington’s disease located?
chromosome 4p
sequence repeated many times in Huntington’s disease
CAG (glutamine)
At what age will HUntington’s develop?
starts at middle age and lasts for 15-20 years
What types of movement disorders do you have in Huntington’s?
sudden jerky, involuntary movements throughout body– also progressive dementia
probability of a child inheriting Huntington’s disease when one parent is affected?
50%- both boys and girls are equally affected
Appearance of someone with Marfan syndrome
unusually tall, long limbs and long thin fingers
Who does Marfan syndrome affect?
male and females equally- no ethnic or geographic bias 1 in 3,000 or 5,000 people have Marfans
Define Marfan Syndrome
disorder of fibrous connective tissue, specifically a defect in type 1 fibrillin, glycoprotein encoded by FBN1 gene (15q)
Where on a chromosome is Marfan syndrome located?
15 q
features of Marfan Syndrome
mitral valve prolapse, myopia and lens displacement, borderline aortic enlargement
