Dr. verybad has discovered a new neurodegenerative disease 6164

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 Don’t 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)