Week 11, Chapter 8 -- Digging Deeper Course home | Weekly schedule | Announcements | Instructor Info | Desire2Learn | MasteringBiology® | Honor Code | FAQs | HELP!

Introduction

In this assignment, you will explore sex-linked traits and their effects on human phenotypes. You will also learn a little bit about the relationship between genes, proteins, and mutations. Some of this stuff can get pretty confusing and technical, so remember to ask your instructor if you need help!

Instructions:

Part 1:

Go to the Online Mendelian Inheritance in Man (OMIM) website. At the top of the site, you will see a search option. Click on "Advanced," then from the "All Fields" drop-down click "Chromosome" in both search fields and "Or" for the search function. Then search for "X" or "Y" to see x-linked and y-linked traits. Browse through the traits and pick one that begins with the first letter of your first name (either the medical name or common name of the trait is fine).  Beware, however, that some of the common names of the traits do not show up until you actually click on the link to that trait. For example, CHONDRODYSPLASIA PUNCTATA 2 is also known as Happle Syndrome, but you don’t know that until you click on the link for Chondrodysplasia Punctata 2.  In other words, if your name is Chris or Harry, you could use this trait for your assignment.  If you can’t find a trait that begins with the same letter as your first name, then move to the second letter of your first name, and so on, until you find one that works. With so many traits from which to choose, you shouldn’t have too much trouble finding one that works for you!  

Once you have chosen your trait, do a general internet search on its medical and common names. OMIM has some pretty technical terminology in it; unless you are unusually good at deciphering that type of language, you will want to find some other sources that will help you learn more about your trait.

Part 2:

Now, pretend your local elementary school is doing a unit on genetics and wants to create displays for a variety of sex-linked disorders.  You've volunteered to help, so you're going to use the OMIM site plus your other sources to write a report that can be posted at the exhibit. In your report, you must explain all of your information in a way that a 10-year-old can understand.  Your report should be between 450 and 550 words and address the following points. 

1. Give a general description of your trait. Is it X-linked or Y-linked? (You can tell this from the gene map locus on OMIM.) Is it dominant, recessive, codominant, etc.? Check the "Inheritance" section of the entry in OMIM for some clues; your broader internet search should help too.
2. Describe the symptoms experienced by people who exhibit this sex-linked trait. Check the "Description" and "Clinical Features" sections of the entry in OMIM. Also, explain how serious the disease or condition is, whether it affects males and females equally, whether it causes problems in children or adults, etc. 
3. As you will learn in more detail in the next chapter, genes encode proteins. When a gene becomes mutated (i.e. their DNA sequence is changed), the encoded protein may no longer function. The result of a genetic mutation may therefore be an illness. What is the function of the normal protein that your sex-linked gene encodes? Why doesn't the mutant protein function properly? The information you need should be on “OMIM” website; see especially the section on "Molecular Genetics".  If it isn’t, you can find the information elsewhere.
4. Discuss whether there is a treatment or a cure for the disease or condition caused by your trait. You may need to go to other sources for this one too! You may also add any other interesting facts you feel you should include. 
5. Briefly describe some recent research related to your chosen trait.
6. If you had a friend whose child was diagnosed with this trait, how could you help?

List all references you used to write your report, using the correct format for citations.

* NOTE: Because of the technical language involved, this assignment may tempt you to “cut and paste” from the OMIM or 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 OU's Academic Integrity website. 

You can view a sample assignment here.

Part 3:

Post your spell-checked, proofread assignments on 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