BIOL 1010 : BIOL1010A Genetic briefing.docx

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14 Jul 2014
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Huntington disease is an inherited neurodegenerative genetic disorder that dysfunctions/declines one"s cognition, movement and leads to mental disturbances, including depression and altered personality. The disease is particularly seen in humans aged 35-45 years, although 5-10% of juvenile variant can be affected. The disease is an autosomal dominant mutation, therefore the offspring of the affected parent with huntington disease has a 50% of inheriting the disease- causing allele. Huntington disease is commonly seen in those of european descent and it affects. The htt gene that codes for huntingtin is caused by a trinucleotide repeat expansion (cag), about 36 or more repeats in the gene, although it is a very low spontaneous mutation rate. The trinucleotide repeat expansion (cag) is the only known mutation associated with the gene. The glutamine repeat expansion occurs at the beginning (n terminus) of huntingtin. The gene is located on the short arm of chromosome 4, specifically at position 16. 3, from base pair3,113,411 to base pair 3,282,655.

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