Genetics

NameProfessorSubjectDateAngelman SyndromeIntroductionAngelman syndrome , a neuro agenttic complaint , was first delineated by Dr nettle Angelman in 1965 through intensive examination on the harbor on children . The inactivation of a component for ubiquitin-protein ligase orUBE3A which is similarly laid in chromosome 15 causes mutation resulting to Angelman syndrome (Niemitz and Feinberg 599 . This mutation triggers delayed push skills victimization , seizures , jerky-puppet stance , cognitive skills impairments , paroxysmal laughter , phrase defects , stick out tongue and prognathism . In the course of developing and development , the UBE3A gene is transmitted by the father into the payoff while the maternal allele shapes the brain (Niemitz and Feinberg 599 . Meanwhile , the homecoming of the pioneer researches conducte d by Dr . Angelman on the mysterious happy-puppet syndrome has led to the appellation of chromosomal aberrations on 15q11-13 as the prime cause of the disease (Pelc , Cheron and Dan 578 . As progresses , the factors that speed 15q11-13 chromosomal aberrations were successfully traced that led to the government note of the Angelman syndrome from Pader-Willi syndrome . Specifically , the typeface of the UBE3A gene in the brain was named as the major perpetrator for the occurrence of the disease . Physiologically , whole maternal allele is typically expressed in certain(prenominal) regions of the brain . The absence seizure of UBE3A gene leads to the 15q11-13 deletion from maternally inherited chromosome , paternal UPD , UBE3A gene mutation , and imprinting midriff mutation (Pelc , Cheron and Dan 578 . Since UBE3A gene was identify the phenotypic may furnish cues on the underpinning genetic instrument of the disease . This...If you want to snuff it a full essay, come in it on our website: OrderCustomPaper.com

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