Angelman Syndrome Report! Help!!!!?!
Question: im doing a report on angelman syndrome but i cant find what type of genetic disorder it is or how its inheritated. can some one help me please!! i have an "A" in bio and i want to keep it that way some one PLEASE HELP ME!!!!
Answers: im doing a report on angelman syndrome but i cant find what type of genetic disorder it is or how its inheritated. can some one help me please!! i have an "A" in bio and i want to keep it that way some one PLEASE HELP ME!!!!
Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.
Table: Genetic Classes of Angelman Syndrome
Large typical deletion 70% Hypopigmentation is common
UBE3A mutation 5-7% Possibility of normal carrier mother
Paternal uniparental disomy 2-3% Inheritance of both 15s from father
Imprinting defect 3-5% Some have IC deletion, some do not
Other chromosome abnormalities 2% Unusual chromosome rearrangements
Unknown 15% All diagnostic tests negative (FISH, methylation, UBE3A mutation analysis
Check this site out to understand the genetic components. It seems to have the most info:
http://www.asclepius.com/angel/asfinfo.h...
(they also link to 4 other excellent sites for additional info)
********************
Hope this helps you with your research! Congrats on the A in Biology, keep up the good work!!
there are web sites with information here is one
http://www.angelman.org/angel/