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BIMM 110 Section 9 Pset

BIMM 110 Section 9 Pset

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Published by George Chen
BIMM 110 Molecular Basis of Human Disease
Problem Set #9 by George Chen
BIMM 110 Molecular Basis of Human Disease
Problem Set #9 by George Chen

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Published by: George Chen on May 30, 2009
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12/10/2013

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BIMM 110 Molecular Basis of Human Disease
TA: George Chengtchen@ucsd.eduOH: Tu 12:30-1:30 Sierra Summit or by appointment See AnnouncementsSection: W 4:00-4:50 Center 203
Problem Set 9
Announcements:
My Wednesday section this week will be lead by Stephanie.
This problem set (and the last two lectures) will be discussed in my Friday section.
Because of my Friday section, Tuesday office hours are canceled
FRIDAY SECTION: Friday June 5
th
, 4-6pm, Cog Sci Building (CSB) 5
Check WebCT for final room information
Review session with Professor Zhang: Saturday June 6
th
, 10am-12pm, Center 105
This problem set covers lecture 16 and 17.1. Describe the structure of the dystrophin protein and point out which regions are mutated inDuchenne's and Becker's Muscular Dystrophies. How do these regions explain the difference inage of onset between the two diseases?2. A HE stain of a patient's hip muscle shows muscle fiber bundles that appear to be somewhatporous; that is, negative space exists between bundles. What can you conclude about thispatient's DMG gene?3. What features of the dystrophin gene allow for a high degree of mutation within the gene?
 
4. Match the following diseases to their characteristics.DMDWeakness along hips and shouldersBMDEnlarged calvesLGMSEnlarged ventricular chambersDCMShortened dystrophin protein5. The dystrophin gene was discovered in female patients by locating a __________________,while in males the gene was found by looking for a _________________.6. Down Syndrome patients have been known to suffer from early onset Alzheimer's Disease.How is this explained at the molecular level?7. In
House MD
, Dr. Remy “Thirteen” Hadley has a familial history of Huntington's Disease. Howwould she test to find out if she will develop Huntington's? What result would indicate definitedisease development? What result would indicate indefinite disease development?8. What drug may a doctor prescribe as therapy for Fragile X syndrome? How would this drugwork to reverse the effects of the syndrome?

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