Which gene, when deleted from the maternal chromosome, is associated with Angelman syndrome?
Understand the Problem
The question is asking about a specific gene that, when deleted from the maternal chromosome, is linked to Angelman syndrome. This involves genetic information related to the syndrome's etiology.
Answer
UBE3A gene deletion on maternal chromosome is linked to Angelman syndrome.
The deletion of the UBE3A gene from the maternal chromosome is associated with Angelman syndrome.
Answer for screen readers
The deletion of the UBE3A gene from the maternal chromosome is associated with Angelman syndrome.
More Information
Angelman syndrome is typically caused by a deletion or mutation in the UBE3A gene on the maternal chromosome. This gene is located in the 15q11-13 region of the chromosome. A loss of function in this gene results in neurological symptoms characteristic of the syndrome.
Tips
A common mistake is confusing the paternal and maternal chromosomes in context with Angelman syndrome. The issue specifically concerns the maternal copy of the UBE3A gene.
Sources
- MedlinePlus Genetics - Angelman Syndrome - medlineplus.gov
- Angelman Syndrome - StatPearls - NCBI Bookshelf - ncbi.nlm.nih.gov
- Genetics of AS - Angelman Syndrome Foundation - angelman.org
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