Angelman Syndrome

Angelman syndrome, also c solelyed happy creature syndrome, is a factortic disease named aft(prenominal) the doctor who first describe it back in 1965. Angelman syndrome affects an estimated 1 in 10,000 to 20,000 bulk. The typical features of a psyche with Angelmans syndrome acknowledge mental retardation, blond hair, pale, deep-set eyes, a long chin, a brute-like gait, and an preposterous laugh. This is where the nickname happy puppet syndrome is derived. (Angelman Syndrome) There is bingle study agent of Angelman Syndrome. People normally put one across two copies of the UBE3A cistron, one from separately p atomic number 18nt. Both copies of this constituent are active in more another(prenominal) of the bodys tissues. In the brain, however, only the double inherited from a persons bring (the maternal(p) facsimile) is active. If the maternal copy is lost because of a chromosomal change or a gene revolution, a person will have no active copies of the UBE3A gene in their brain. This evil of gene run away likely causes many of the characteristic features of Angelman Syndrome. The UBE3A gene is located on chromosome 15. Most cases of Angelman Syndrome (about 70 percent) drop dead when a portion of maternal chromosome 15 containing this gene is deleted. In other cases (about 11 percent), Angelman Syndrome is caused by a mutation in the maternal copy of the UBE3A gene.

The OCA2 gene is located on the segment of chromosome 15 that is often deleted in Angelman syndrome. A loss of this gene results in unusually clean hair and middling peel in some people with the condition. Since Angelman Syndrome it due to the diversity or deletion of chromosome 15, Angelman Syndrome occurs in males and females equally, and it affects all racial groups. (Angelman Syndrome) The major(ip) common features of Angelmans syndrome, in addition to those already mentioned above, allow in the lack... If you pauperization to get a full essay, order it on our website: Ordercustompaper.com

If you want to get a full essay, wisit our page: write my paper