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1. Introduction 2. Interview 3. Physical Examination 4. Lab Tests 5. Study Questions Contact Lynda
Biology 170: Human Pathophysiology -- Case Studies -- Instructor: Lynda C. Titterington

Matthew Bennett: Study Questions

Diagram of CF inheritance:

Source: http://www.merck.com/pubs/mmanual_home/illus/2i2.htm

Pedigree

Both Matthew and his sister, Kelly were diagnosed with cystic fibrosis. Their pediatrician ordered antibiotic therapy for their respiratory infections. He also prescribed pancreatic enzyme replacement, water-soluble vitamins, and a high-protein, low-fat diet.

Matthew's parents, Richard and Diana, were instructed in chest physiotherapy for both children. The family's day begins with inhalation treatments to loosen the mucus in their children's lungs, followed by a half-hour of postural drainage in which Matthew and Kelly lie across their parents' laps while they pound on their backs to help expel the mucus.

Richard and Diana have always wanted to have four children, but they are concerned about having another child with cystic fibrosis. The Bennetts' physician referred them to a genetic counselor who helped them develop the following pedigree.

Questions:

Please email your answers to your instructor or write the answers down in your case log book.

Just complete this form. Click on Submit when ready to send.

Your name:
Email address:
1. What is the inheritance pattern of cystic fibrosis?
Autosomal dominant
Autosomal recessive
Sex-linked
2. Which individuals must be carriers? (Check all that apply.)
Richard
Diana
Kelly
Matthew
Mark
3. If Richard and Diana decide to have another child, what are the chances that he or she will be phenotypically normal?
25%
50%
75%
100%
4. What is the chance that Richard and Diana's next child will be a carrier of the CF gene?
25%
50%
75%
100%
5. The cystic fibrosis gene impedes the function of what type of protein?
An enzyme.
A membrane transport protein.
An intracellular protein.
A structural protein
BONUS: Should Richard and Diana have another child? In addition to quality of life issues, your answer should include a discussion of prenatal screening tests.

    

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