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Dr. Verybad has discovered a new neurodegenerative disease

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Dr. Verybad has discovered a new neurodegenerative disease (Verybad disease, VBD).;The disease starts as headaches and muscle weakness and progresses to cognitive;impairment, loss of muscle control, and death. The cause of the disease is currently;unknown and there is no treatment. Dr. Verybad has a hypothesis that this is the result of;a mutation in a gene located on the X chromosome called Dont Touch This gene 1;(Dtt1). Dr. Verybad wants to sequence the gene to determine if there is a mutation in Dtt1;responsible for the pathogenesis of VBD.;1) If the defect is in Dtt1, what do you predict would be the male to female incidence;of VBD and why? (10 points);2) If there is a mutation in the sequence approximately 250 base-pairs upstream of;the transcription start sight, what might this mutation be affecting? Propose 1;experiment to investigate this possibility. Explain the protocol, controls, and;expected results. (10 points);3) If there is a mutation that falls within an intron close to an exon junction, what;might this mutation be affecting? Propose 1 experiment to investigate this;possibility. Explain the protocol, controls, and expected results. (10 points);4) If there is a mutation within an exon, what might this mutation be affecting?;Propose 1 experiment to investigate this possibility. Explain the protocol;controls, and expected results. (10 points);5) If there is a mutation in the 3 Untranslated region (3 UTR), what might this;mutation be affecting? Propose 1 experiment to investigate this possibility.;Explain the protocol, controls, and expected results. (10 points);6) After sequencing the Dtt1 gene, Dr. Verybad found no changes in the gene;sequence. However, he has found that the protein forms aggregates within the;cells that results in plaque formation, neuronal loss, and a spongy look to the brain;tissue. What might the cause of this disease (5 points extra credit, up to a total of;50)

 

Paper#18067 | Written in 18-Jul-2015

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