Using Cystic Fibrosis as a Model Disease to Teach Biology

Sharon Gusky Karen Hunter

Northwestern CT Community College

Topics Covered in Biology that you can link to Cystic Fibrosis

• Atoms/Ions• Plasma Membrane /Channel Proteins• Osmosis and Diffusion• Cell structure and Function• Chromosomes• Protein Synthesis• Gene Mutation• Mendelian Genetics

Atoms and Ions

Chloride Ions• serves as one of the main electrolytes of the

body. • represent 70% of the body’s total negative ion

content. • combines with hydrogen in the stomach to

make hydrochloric acid,

• What Is Cystic Fibrosis? (http://www.cff.org/AboutCF/)

• Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system

• About 30,000 children and adults in the United States (70,000 worldwide) have the disease

• A defective gene and its protein product cause the body to produce unusually thick, sticky mucus

Plasma Membrane/Channel Proteins

Osmosis and Diffusion

Cell Structure and Function

DNA/ Chromosomes

Protein Synthesis / Mutations

Mendelian Genetics

A Cystic Fibrosis WebQuest

Use the following web resources to answer the questions and learn more about CF

I. An introduction to Cystic Fibrosis http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_what.htmla. What is cystic fibrosis(CF)?b. How is it inherited?c. What are the symptoms associated with the disorder? II. The CF protein :Section 1 – Understanding the Problemhttp://learn.genetics.utah.edu/content/tech/genetherapy/cysticfibrosis/index.htmla. What type of mutation causes CF?b. What is the normal role of the CF protein?c. What happens when the protein does not work properly?

III. Screening newborns http://www.cff.org/AboutCF/Testing/NewbornScreening/a. What are the advantageous of screening newborns?b. What, if any, are the disadvantages?c. Do newborns in Connecticut get screened for Cystic Fibrosis? IV. Diagnosing Cystic Fibrosisa. How is CF diagnosed? V. Read the information on the three diagnostic test we will be doing in labTrysinogen Testhttp://www.labtestsonline.org/understanding/analytes/trypsinogen/glance.htmla. Why is further testing needed if the Trysinogen test is positive?Genetic Testinghttp://www.labtestsonline.org/understanding/analytes/cf_gene/glance.htmla. What chromosome is the CF gene on?b. What type of mutation causes CF?Sweat Testhttp://www.labtestsonline.org/understanding/analytes/sweat_chloride/glance.htmla. Why do you think the sweat test is considered the confirming test for CF?

Guthrie Card and Patient History

Positive Control –Negative Control – 4 Patients

PCR

Sweat Test