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BIOL 205 Human Genetics
Task:
Rather than an in-class exam for BIOL 205, your final project will be a paper on a genetic disease or trait. Pick a genetic disease or trait that was not mentioned in a lecture, on an exam, or in a lab. Then, write a paper about that disease, including the following information.
1. Statistics about the disease or trait – how common it is, how many people die from it (if relevant), how much it costs the healthcare system, is it more common in certain populations, etc.
2. What gene or genes are involved in the disease or trait? What is the normal function of those genes?
3. What mutations lead to the disease/trait? How many are there? What are the most common mutations? What kind of mutations are they (substitution, insertion/deletion, etc.)? How do they affect the protein produced?
4. What pattern of inheritance does the disease/trait show?
5. How do DNA changes actually lead to the disease? What cells/parts of the cell are affected? What tissues are affected?
6. What are the symptoms of the disease?
8. What is the prognosis? What percent of people with the disease die? How long do people with the disease live?
9. How is the disease treated?
BIOL 205 Human Genetics
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