Week 12, Chapter 9 -- Digging Deeper Course home | Weekly schedule | Announcements | Instructor Info | Desire2Learn | MasteringBiology® | Honor Code | FAQs | HELP!

Introduction

In this assignment, you will explore the link between genes and a specific disease in a little more detail than you did in the last Digging Deeper assignment. Remember, this stuff can get technical pretty quickly, so be sure to ask your instructor if you need help.

Instructions:

Part 1:

Go to the Genes and Disease page at NCBI (National Center for Biotechnology Information).

There you will find a list of body locations for identified genetic diseases. Browse around until you find a category that interests you. If you click on any of the body locations, you will see a general description of the body system.

Once you have selected a body system category, click on a specific disorder that interests you below the general description [anything except SCID, which is discussed in the chapter and the sample assignment]. You will see an explanation of the gene(s) that contribute to the disorder. The description may contain some technical language, but you should see some familiar terms from your previous readings on metabolism, cell structure, and genetics.

This screen also includes a list of several Links in the right navigation. I recommend these three:

• Click on Genome View to see the chromosome location(s) for the gene(s).
• Click on OMIM (this leads to another website called Online Mendelian Inheritance in Man) to learn more about the inheritance of the disorder.
• For some diseases, there is a list of Websites with less technical information such as patient fact sheets that may be useful to you in completing this assignment.

(Optional: If you’re interested in evolution, you might also click on BLink, which shows similarities of your gene with related genes in other organisms, including archaea, bacteria, animals, fungi, plants, and viruses).

Part 2:

For your Digging Deeper assignment, answer the following questions in complete sentences about your chosen disorder:

1. Which disorder did you choose, and why did you choose it?
2. What body system is affected?
3. What are the symptoms of the disorder, and how many people are affected? What is the life expectancy for people with this disease? Does the disease affect adults and children equally?
4. Is one gene responsible for the disorder, or many?
5. What chromosome(s) is/are the gene(s) on? Does the disorder affect males and females equally? (Hint: think back to the previous chapter).
6. What is the normal function of the protein that, when faulty, contributes to the disorder you chose? (If your disorder involves multiple genes, just choose one).
• If it is an enzyme, what chemical reaction does it catalyze?
• If it is a transport protein, what does it transport?
• If it is a signaling protein (i.e. controls the production of another protein), how does it do so?
• Or does the protein have another function?
• [Note that the function of the protein may not be immediately clear – these websites use words that you may not immediately understand! If the site says the protein is something like “cotransporter,” and it is not in the index of your textbook, enter the word into Google or an online dictionary to find a definition. Check with your instructor if you just can't figure it out. Then explain it to the rest of us so we can all learn something.]
7. If the disease mechanism is understood, how does the faulty protein cause disease?
8. Is the disease-causing allele dominant or recessive?
9. Is there a treatment or cure?
10. If a genetic test for this disease-causing allele were available, and you had a close friend who was pregnant, would you suggest that she get her fetus tested for it? Explain your answer.

Because of the technical language involved, this assignment may tempt you to “cut and paste” from other websites. Remember, that is plagiarism and an example of academic misconduct! You must learn to paraphrase, which means writing the ideas in your own words. If you need help with that, visit the site on Avoiding Plagiarism . And remember to correctly cite all references you used in creating your report.

You can view a sample assignment here.

Part 3:

Use D2L's spell checker (or the one on your word processor software, which will give you a word count as well). Proofread it yourself too, because spell checkers don't catch everything. When you are satisfied, post your completed assignment in the Digging Deeper forum for this week at the D2L discussion board.

Part 4:

Respond to at least two other students’ assignments. (If you are the first or second person to post, you will have to check back later to complete this part of the assignment). Your response should address whether you found the disease mechanism easy to understand from the author's description.

• Just as you spell checked and proofread your original post, you should do the same for your responses.
• Please respond to posts with 0 responses first; once every post has at least one response, you are free to choose any post to respond to.
• When you respond, please use the name of the student you are responding to. That is, say "Hi Trudy" or "Hi Paul" so that you can get used to the names of the people in class. (You can find a list of "real" names and preferred names at D2L).
• In your response, be sure you mention something specific that the writer did well. Also, specifically address anything you find that seems incorrect to you (phrased in a constructive way -- use the same language you would want someone else to use in telling you something you did wrong). I don't mean spelling errors and typographical errors. I mean more substantive comments. You may wish to argue with (or critique) what the student wrote, request supporting evidence, evaluate the student's argument, add new information, make a factual correction, or explain why you agree. Check out this page for more on the topic of good and bad responses.

After you have posted your assignment AND responded to two other students, go to Desire2Learn and complete the Gradebook Declaration for this week's Digging Deeper assignment. (Your Gradebook Declaration is subject to the Honor Code.)

Contemporary Issues in Biology -- BIOL 1003 Mariëlle H. Hoefnagels, Ph.D. © 2004-2015. biology1003 at OU dot edu (at = @, dot =.) Last Updated August 5, 2014 11:02 PM