Learning Objectives:

1.Classification of chromosomal mutations: you should be able to list the features (genetic, cytological) that identify and distinguish between the following: (a.)deletions (pages 281-282), (b.) duplications (pages 282-286)note: this is responsible for red-green colour blindness in males (see page 284), (c.) inversions (page 286-288), and (d..) reciprocal translocations (page 288-296).

2. A good exam question: If there are two copies of the same gene, why should deleting only one copy result in lethality? After all, you still have the other copy of the gene…

3. You should be able to explain why many (most?) chromosomal mutations cause mental retardation.

4. How often are inversions found in humans?

5. Why is the gene causing Duchenne Muscular Dystrophy mutated so often?

Back to the Genetics Syllabus

Last modified on: 2 February, 2000 by Dave Ussery