Module 3

Assignment 3 - Genetic Testing

Group Assignment

In this assignment you are going to devise a pre-symptomatic test for a fictional genetic disease that causes mental retardation. The disease is caused by a defect in a gene called Ret1 which is expressed only in the central nervous system. The disease is inherited as an autosomal recessive disorder.

For simplicity we are only going to consider one type of mutation at a single location in the gene. The mutation is a deletion beginning at residue 320 and ending at residue 420. The size of the Ret1 gene is 600 bp.

Retardin Gene Structure

Click on the image to see detail of the sequence in the deleted region

Write a report (100 pts. total) about the test you devised. This is a group assignment.

• Describe the principle of the test and how it would be performed (50 pts.).
• Show the results one would expect to obtain from a normal individual, a non-symptomatic carrier and an affected individual (20 pts.).
• Accurately specify the sequence of any DNA probes or PCR primers used in your test (20 pts.).
• Creativity, originality, clarity, understandability, grammar, etc. (10 pts.).

The exact format of this assignment is up to you -- whatever it takes to cover the important information.

Submit assignment.