BIMM 110 Molecular Basis of Human Disease

TA: George Chen gtchen@ucsd.edu

OH: Tu 12:30-1:30 Sierra Summit or by appointment
Section: W 4:00-4:50 Center 203

Problem Set 2
Announcements:
• Office Hours for Tuesday April 14th changed to 2:30-3:30 PC East
• No answers for problem sets will be posted, we will go over the problems in section
• The following problems cover lectures 3 & 4

1. Briefly and specifically describe or diagram mRNA transcription from a DNA template. Include
in your response: TATA box, activators, coactivators, RNA polymerease, sense strand, antisense
strand, and PolyA addition signaling.

2. Explain the difference between a nonsense mutation and a missense mutation.

3. What property of hemoglobin allows the transport of oxygen?

4. Why is one treatment for Thalassemia the injection of fetal hemoglobin?

5. Why does having sickle cell anemia make one prone to opportunistic infections?

© 2009 G.Chen
6. How does the body encode for the various forms of hemoglobin used during development?

7. Briefly list the steps required for detecting methylation in a DNA sequence.

8. How does genetic imprinting affect how genetic diseases are expressed?

9. Name 3 symptoms that describe Angelman's Syndrome.

10. What is the goal of patient treatment with Decitabine? How does this drug work?

11. What gene is mutated in sickle cell anemia?

12. What is the function of the Xist gene? What is the product and where does it bind?

© 2009 G.Chen