- Go to http://www.ncbi.nlm.nih.gov/gene
- You 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:
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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:
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.