Lecture 6: Epigenetics and Disease Flashcards
1
Q
What are features of angelman syndrome?
A
Happy puppet
Developmental delay
Severe speech impairment
Jerky movement
2
Q
What are symptoms of Prader-Willi syndrome?
A
Low muscle tone
Obesity
Short stature
Constantly hungry
3
Q
What location is involved in prader-willis syndrome and angel man syndrome?
A
15q11-13
4
Q
Do you get prader-willis or angelman from deletion in paternal chromosome?
A
Prader-willis
5
Q
What is responsible for imprinting?
A
DNA methylation
6
Q
If both chromosomes 15 are from the father, what disorder occurs?
A
Angelman
7
Q
What gene has a point mutation in 10% of angelman syndrome cases?
A
UBE3A
8
Q
What gene deletion is associated with prader-willis?
A
SNRPN
9
Q
What is X inactivation?
A
One x chromome is randomly inactivated in each cell
