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One Day of Notes
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This 2 page One Day of Notes was uploaded by Brianna Paulling on Thursday November 20, 2014. The One Day of Notes belongs to Biol133 at Pennsylvania State University taught by Dr. Frankel in Fall. Since its upload, it has received 259 views. For similar materials see Human Genetics in Biology at Pennsylvania State University.
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Date Created: 11/20/14
Brianna Paulling Biol 133 Dr Frankel 10 29 14 Genetic Diseases Huntin2ton s mi Neurodegenerative disease Caused by an unusual mutation 100 fatal no treatmentcure Passed on genetically Caused due to a trinucleotide repeat of the amino acid Glutamine Nucleotide code for Glutamine CAG The more the code is repeated the higher the chance of having the disease 3539 repeats Huntington39s Disease NOT detected 4060 repeats Huntington39s Disease DETECTED 60 repeats Worse symptoms of disease earlier onset 20 yrs old and faster progression Huntington worsens with each generation it is passed on Has delayed onset first appears around age 40 Death comes roughly 10 years after first appearance of symptoms Symptoms Stumbling cognitive impairment changes of personality become forgetful Leads to Dementia Famous patient of this disease Woody Guthrie 19121967 Guthrie was a famous American folk musician of the early twentieth century Passed it on to his son Arlo Guthrie Dominant in males DNA testing for Huntington s created by Diane Wexler When her mother died from Huntington s she became determined to study the disease She tested islanders in Venezuela Where over 50 of the pop had Huntington s Marfan Syndrome Famous Patient Flo Hyman American athlete Volleyball 19541986 Hyman died of Huntington s Disease Caused by an abnormality of one s connective tissue Tissue in the aorta is defected Where blood pressure is the highest in the heart A bulge forms that block the artery aorta and keeps blood from being pumped throughout body This is called aortic aneurysm Which caused death Treatment reinforce aorta with a patch simple surgical procedure Neurofibromatosis 1 NF 1 Occurs as a child High varied expressivity Symptoms Light brown cafe au lait spots on skin bumps all over body olive sized tumors Tumors do not normally become cancerous Tumor removal is pointless tumors will grow back anyway Will be horribly disfigured Caused by unusual growth of the connective tissues right below the skin No treatmentcure
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