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Go to http://www.ncbi.nlm.nih.gov/geneYou can either search for a human genetic disease or condition of your choice or you can chose from the list of examples below*. When searching for a disease or condition you may find multiple involved genes. I recommend clicking on the link to a few genes, read the summary and pick the one that is easiest to understand. You may also want to do a web-search to find additional (potentially easier to understand) information about your example. Please try to pick a disease/condition, or at least a gene, not yet described in the discussion by other students (post early if you want to research a specific condition).

*Examples: Huntingdon’s Disease, Muscular Dystrophy, Breast Cancer, Cystic Fibrosis, Albinism, Color Blindness, Parkinson’s Disease, Hemophilia, Sickle Cell Disease, Marfan Syndrome

3. Provide the following information for your specific example:

Name of Disease/Condition:

Name of Gene (pick one if there is multiple):

Type of mutation (s) identified in this gene:

Gene located on Chromosome #:

Name of Protein coded for by this gene:

Role of Protein:

Resulting Trait (symptoms) from mutation:

References used:

4. Explain the central dogma of molecular biology using your gene/protein/trait example.

Hint: When considering the role of this particular protein, does it make sense that a mutation in the gene that disrupts the production of the protein result in this particular trait? Or in other words, is there a clear connection between the role of the protein and the resulting trait?

Part II Punnett Square   Pick one dominant or recessive trait found in your family (do a web-search for dominant/recessive human traits, keep in mind that most of our traits are notcontrolled in a simple dominant/recessive manner). 
What is your phenotype for this trait? What is your likely genotype for this trait?  What is your parents/siblings and/or (if you have) children’s phenotypes for this trait?
Show a likely/potential Punnett Square for this trait in your family. 
If you are adopted or otherwise do not know the phenotype of one or both of your parents for this trait, you can make up an example.

300 words

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