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Human Genetics - Exercise 5 Human Genetics Worksheet...

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Exercise 5 – Human Genetics Worksheet Huntington’s Disease, also known as Huntington’s Chorea, is an autosomal dominant neurological disorder. The gene, located on human chromosome 4, encodes for a protein called huntingtin. The function of normal huntingtin is still unclear, however in the mutant form of the gene, a trinucleotide repeat, CAG – which is the codon for the amino acid glutamine, is expanded and results in potentially dozens of glutamines where there should only be a single glutamine. The longer the poly-glutamine tract, the earlier the onset of symptoms, which initially include mood swings and depression. Later, the disorder progresses to include jerky and uncontrollable movement of the limbs, trunk and face. Continued deterioration of the central nervous system leads to death. Consider the following case: Imagine that one of your parents develops Huntington’s Disease. Because Huntington’s is an autosomal dominant genetic disorder, it affects males and females equally. Any child of an affected individual has a 50:50
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