Go to the table of "Inherited Disease Genes Identified by Positional Cloning" at the National Center For Biotechnology Information WWW site.
Pick an inherited disease gene from the table. Do not pick one of the genetic diseases discussed in the text (see the list below).
Write a short report about the gene and the disease associated with the genetic defect.
Your report should include, but is not limited to, the following information.
- Description of the disease and its clinical features (40 pts).
- Inheritance of the disease (10 pts.).
- Gene locus (10 pts.).
- Known mutations (10 pts.).
- Protein sequence -- signify where the mutation alters the amino acid sequence (10 pts.).
- References (MUST include references in scientific report format [including URLs if you use WWW sites]) (10 pts.).
- Readability, grammar, etc. (10 pts.).
Excluded Genetic Diseases [Top] (-10 pts. penalty)
- Cystic Fibrosis
- Duchenne's Muscular Dystrophy
- Fragile X Syndrome
- Retinoblastoma
- Familial Alzheimer's Disease
- Amyotrophic Lateral Sclerosis
Hints:
- The Online Mendelian Inheritance in Man (OMIM) database is a good source of information about genetic diseases
- Try searching for information about the disease by using a WWW search engine such as Webcrawler. Search using the name of the disease as a keyword.
You may submit the completed assignment by fax, snail mail or as an email message, or (on-campus) submit at 232 Science II or 339 Science II.