Chapter 20. Case Study: Cystic Fibrosis
Published Online: 27 JAN 2004
DOI: 10.1002/047146158X.ch20
Copyright © 2004 John Wiley & Sons, Inc.
Book Title
Cell Biology: A Short Course, Second Edition
Additional Information
How to Cite
Bolsover, S. R., Hyams, J. S., Shephard, E. A., White, H. A. and Wiedemann, C. G. (2004) Case Study: Cystic Fibrosis, in Cell Biology: A Short Course, Second Edition, John Wiley & Sons, Inc., Hoboken, NJ, USA. doi: 10.1002/047146158X.ch20
Publication History
- Published Online: 27 JAN 2004
- Published Print: 14 NOV 2003
ISBN Information
Print ISBN: 9780471263937
Online ISBN: 9780471461586
- Summary
- Chapter
Keywords:
- genetic disease;
- chloride transport;
- CFTR gene;
- gene therapy;
- diagnostic test
Summary
In this chapter we use the relatively common genetic disease cystic fibrosis (CF) to illustrate many of the concepts covered in the book. CF is inherited in a simple recessive manner. Molecular genetics isolated the CFTR gene and electrical measurements showed the CFTR protein to be a plasma membrane chloride channel. Studies of patients' genes showed that the symptoms sometimes arise through a simple failure to synthesize a functional protein but most often are due to a failure to traffic the protein to the plasma membrane. Knowledge of the gene has allowed diagnostic tests for CF in fetuses and may lead in the future to gene therapy for patients.