This investigative case module was prepared as part of a BioQUEST faculty development workshop entitled NSF Chautauqua Short Course: Investigative Cases at Christian Brothers University in July 2004. The cases, resources, and implementation strategies were developed by participants for use with their own students. We invite you to adopt and adapt the following materials.

The BioQUEST Curriculum Consortium is committed to the reform of undergraduate biology instruction through an emphasis on engaging students in realistic scientific practices. This approach is sometimes characterized as an inquiry driven approach and is captured in BioQUEST's three P's (problem-posing, problem-solving, and peer-persuasion). As part of this workshop groups of faculty were encouraged to initiate innovative curricular projects. We are sharing these works in progress in the hope that they will stimulate further exploration, collaboration and development. Please see the following links for additional information:

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Investigative Cases
   
The Case: X Files

Dr. Davis came into the room where John and Jill were anxiously awaiting the results of the amniocentesis performed earlier.

"John and Jill, I know how delighted you are with this pregnancy and the prospect of having a son now that your daughter Janet is nearly 5."

"Jill," he continued, "the amniocentesis which we performed due to your age of 42, has given us both positive news and negative news. There is no evidence of Down’s syndrome or any of the other problems that we begin to worry about in women your age. However, the test for Fragile X did come back positive.”


“Fragile X...” moaned John. "Does that mean there a bad X chromosome? Did it come from my side of the family? If it’s genetic, does that mean we can’t do anything to make it better? Does that mean that our son won’t grow up to have a family of his own?”

“But,” Janet said, “Our daughter is fine. How can this be?”

Case Author:
Jean DeSaix University of North Carolina at Chapel Hill

Case Analysis

Genetic Basis of disease
sex linkage
genetic counseling
amniocentesis

Option: Include a know / need to know chart like the one below:

What do you know?
What do you need to know?
   

Learning Goals

Goal(s)

How sex chromosomes are inherited? (meiosis)
In what situations is amniocentesis used?
Information about fragile X
-symptoms
-inheritance
-testing issues
-molecular basis of disease



Standards

 

Investigations and Activities

In lab, a group of 3-5 students will be assigned this case.
(Other students will explore other cases.) Students will read the case and complete the "know/need to know" chart and then assign "need to know" explorations to group members.
The following week the group will provide their information as an oral presentation.
Students might investigate how to assist Fragile X patients in learning more about Fragile X.

 

Resources

The children of a female with a full mutation on one chromosome and a stable version on the other, each have a 50 percent chance of receiving the stable version and a 50 percent chance of receiving the mutant version. Most of those who receive the mutation will have the full mutation although there have been cases observed in which the number of repeats was reduced.

Explore the National Fragile X Foundation http://www.fragilex.org/index.htm

Information about Human Genetics on OMIM http://www.ncbi.nlm.nih.gov

Students will usually obtain additional references or resources
to help answer or explore their questions.

Special Data Items

Reproduced with permission. Stephen T. Warren. Trinucleotide Repetition and fragile X Syndrome. Hospital Practice 1997; 32(4):73. Copyright The McGraw-Hill Companies, Inc. Illustration by Seward Hung. http://www.fragilex.org/assets/images/gen7043.gif

1. AFMimage.gif
2. fragx.gif

 

Student Products

Draw a pedigree showing the inheritance of Fragile X in this case.

Take the list of what you need to know and prepare information about each item in the list.

For Honors Course: Gene imprinting, Methylation as gene control, Dosage compensation, Phenotypic outcomes
What did you learn that is new?

Assessment and Evaluation Plan

Class members will fill out an evaluation form which includes
a.How well do I understand the fundamental biology of this case
b.How well do I understand the results of each investigation (list each by a keyword of your own choosing)

Group members will fill out an evaluation of their on activities including
a. How much was learned from individual investigation?
b. Did working in a group aid learning of this topic?

 

Implementation

Will use the basic case in Gen Bio Lab
May use the case with extensions in an Honors Gen Bio Course

1. Student read the case aloud to the group
2. Each student spends 2 minutes listing what the case is about, listing key words.
3. List (paper, transparency?) what the major case themes seem to be
4. What do you already know (from psych courses, other science courses, friends, etc) that relates to this case.

What do you need to know?
Spend 15 minutes generating these lists.
5. The group should then decide which of the “need to know” questions they want to follow. Each group member should follow one of these questions to present as part of the group oral presentation.
6. The group as a whole will plan a presentation to the class which will
a. Take no more than 30 minutes
b. Present the basic biology involved in this case and then
c. Present material from their own investigations
7. Class members will fill out an evaluation form
which includes
a. How well do I understand the fundamental biology of this case
b. How well do I understand the results of each investigation (list each by a keyword of your own choosing)
8. Group members will fill out an evaluation of their own activities including
a. How much was learned from individual investigation
b. Did working in a group aid learning of this topic
9. Several key points will be summarized by the instructor to add to the content base of the course (i.e. testable material).

Course name:
Principles of Biology (Gen Bio)
Likely sequence in syllabus:
During the genetics unit
Time during term:
middle
Duration:
Setting:
Lab
Students in course:
Collaborative elements:
Group work
Additional notes:

 

Credits

Atomic Force X
Used with permission of Rob Willemsen, Ph.D., Erasmus University
http://www.fragilex.org/assets/images/p0002327.gif

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