| 
  • If you are citizen of an European Union member nation, you may not use this service unless you are at least 16 years old.

  • You already know Dokkio is an AI-powered assistant to organize & manage your digital files & messages. Very soon, Dokkio will support Outlook as well as One Drive. Check it out today!

View
 

AS Genetics 3

Page history last edited by Derrick Roach 14 years, 5 months ago

 

 

Genetics

 

 

               AS has complicated genetics, with at least 5 varying genetic defects able to cause the condition.  Every single one of them includes a particular area on the chromosome 15 inherited from the mother.  This section is titled 15q11-13 (bands 11 through 13 on the long arm of chromosome 15).  Indicating a distinctive singularity known as imprinting, AS only occurs when anomalies appear in this area of the maternal copy of chromosome 15[1]

 

 

                                                                                     Chromosome Deletion

 

                                                                                     UBE3A Mutation

 

                                                                                     Uniparental Disomy (UPD)

 

                                                                                     Chromosome Rearrangement

 

 

 http://www.cureangelman.org/images/mechanisms.jpg

[2]

 

 

 

Home

Footnotes

  1. Roggenbuck, Jennifer Ann, MS, CGC. "Angelman syndrome." Gale Encyclopedia of Genetic Disorders. Ed. Brigham Narins. Online. Detroit: Thomson Gale, 2008. Science Resource Center. Gale. 26 October 2009
  2. Genetics 101. Web. 1 Nov 2009. .

Comments (0)

You don't have permission to comment on this page.