Genes are the individual units of DNA, the building blocks of life. When mistakes or mutations occur, they can cause genetic disorders. Hereditary, or germline mutation, can be passed on from generation to generation. Acquired, or somatic mutation, may be caused by environmental stress.
Use reference and circulating library books for background information. Journal articles and some information on the web will help you round out your report.
Choose one of these topics for your research. If you have another genetic disease you would prefer to use, please discuss it with your instructor.
|Color Blindness (color Vision Deficiency)
|Cri du Chat
||Sickle Cell Disease|
||Triple X Syndrome|
||Muscular Dystrophy (Duchenne's)
Your assignment is to design a PowerPoint presentation to describe and discuss a specific genetic disorder. The information will be presented orally in class and the PowerPoint slides will be added to the e-classroom. You are encouraged to use this web site and Chapter 15 in the text.
The following criteria will be used to evaluate your presentation:
You will be working in teams of two. Each person must participate in all aspects of the assignment. Do NOT split the work into research and presentation. Each person must take part in the research and the oral presentation.
1. The information must be current and correct.
2. The information must be presented in a concise manner. Do the research first, and then design the slides. Use bullets appropriately and avoid wordiness.
3. Do NOT copy information from your references.
4. Organize the information in a logical manner.
5. The information should be understandable. Do not use terms you cannot pronounce or do not understand. Please consult me for help.
6. The presentation should have visual appeal but stay away from overly dramatic displays. (flying words, the “typed” effect, weird noises etc.)
1. Briefly describe the disorder. Include characteristics, symptoms, age of onset and any relevant ethnic information. Do NOT list every symptom or characteristic. Include only the most relevant and important points.
2. Discuss any unusual or unique features of the disorder.
3. Discuss the genetic basis for the disorder.
a. Is the disorder inherited?
b. Is it an autosomal inheritance or recessive?
c. Is the disorder a result of a mutation?
d. Is the disorder a result of too many or too few chromosomes?
4. Explain the inheritance by doing one of the following: construct a punnett square to illustrate path of inheritance, describe and illustrate with a diagram nondisjunction, show a karyotype of an affected individual, or design a pedigree chart to show several generations of inheritance.
5. Describe the prognosis for individuals with this disorder. Are there any medical treatments available? What is the average life expectancy? Are there genetic tests available?
6. What is the current research focus or gene therapy (if any) for this disorder?
7. Finally, provide a references slide in proper MLA format.
FINDING JOURNAL ARTICLES
Research Journal Articles for the most recent information. Use peer reviewed or scholarly (articles) for authoritative information.
Search these web sites for information. You may also want to try a web search on your own, but be sure to determine the authority of your source.
GETTING HELP FOR YOUR ASSIGNMENT
GETTING HELP FOR YOUR ASSIGNMENT
Citing Sources Using the Library MLA Style Guide | LSC-Kingwood library guide. Examples of both paper and electronic citations.
Learning Center | Check our hours for in-house tutoring.
Contact your professor for questions about the assignment.