Module 3

Assignment 2 - Genetic Diseases

Individual Assignment

Go to the table of "Inherited Disease Genes Identified by Positional Cloning" at the National Human Genome Research Institute 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).

Hint: You may find helpful information by following the "Accession Number" and "OMIM Number" links for the disease you choose.

Part A. Gather the following information about the genetic disease and the submit the information using ClassNet - select the assignment labeled "Gen Disease"

1. Name of the disease (5 pts)
2. Describe the disease (e.g. symptoms, age of onset, other clinical features). (20 pts)
3. Describe the inheritance of the genetic disease. Is it autosomal or sex-linked? Is it dominant or recessive? (10 pts)
4. Name(s) of the gene(s) associated with the genetic disease. (5 pts)
5. What chromosome is the gene located on? (5 pts)
6. Describe the most common mutation associated with the genetic disease. (10 pts)

Part B. Share your information with other students in the class.

1. Submit a one paragraph description of the genetic disease to the ClassNet Discussion Forum (Module 3 - Genetic Diseases Topic). (10 pts)
2. Post a comment or question about a genetic disease paragraph submitted by another student. You will receive 5 pts for each post up to a maximum of 10 pts.

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. Search using the name of the disease as a keyword.

Excluded Genetic Diseases [Top] (-10 pts. penalty)

• Cystic Fibrosis
• Duchenne's Muscular Dystrophy
• Fragile X Syndrome
• Retinoblastoma
• Familial Alzheimer's Disease
• Amyotrophic Lateral Sclerosis
• Huntington's Disease