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Cystic Fibrosis

A Test For The Cf Gene

Recently researchers have located a number of defects on particular genes that appear to be responsible for the majority of CF cases. Knowing the location of these gene mutations makes it possible to test for carriers of the disease (individuals who have only one defective gene copy, and therefore have no symptoms themselves). Currently the test detects 85% of all CF gene mutations, which can be determined by extracting DNA from a persons blood, cheek cells, or saliva. Some researchers feel that this detection rate is still too low and that testing should be performed only on persons who have a familial history of CF or are Northern European by descent. Others argue that because the test is relatively inexpensive and easy to perform the test should be offered to everyone. At this time, testing for the gene responsible for CF remains controversial. In particular, testing parents prior to or during a pregnancy to determine their carrier status has resulted in controversy.



Kepron, Wayne. Cystic Fibrosis: Everything You Need to Know (Your Own Personal Health). Toronto: Firefly, 2003.

Orenstein, David M. Cystic Fibrosis: Medical Care. Philadelphia: Lippincott Williams & Wilkins Publishers, 2000.

Shale, Dennis J. Cystic Fibrosis. BMJ Books, 2002.


"Gene therapy for CF reaches Human Lungs." Science News 146 (September, 3 1994): 149.

Johnson, Larry G. "Gene Therapy for CF." Chest 107 (February 1995): 775–815.


Cystic Fibrosis Foundation. "About Cystic Fibrosis." (cited January 15, 2003) <http//www.cff.org/about_cf/what_is_cf.cfm>.

Bryan Cobb
Kathleen Scogna


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—Any of two or more alternative forms of a gene that occupy the same location on a chromosome.

CF transmembrane conductance regulator

—A protein that acts as a pump in the cell membranes of airway and pancreas cells. The pump regulates the transport of sodium and chloride into and out of cells.

Homozygous recessive disorder

—Genetic disorder caused by the presence of two defective alleles.


—A technique in which blows are administered to the back and chest to loosen mucus in the respiratory tract.

Additional topics

Science EncyclopediaScience & Philosophy: Cyanohydrins to Departments of philosophy:Cystic Fibrosis - The Genetic Basis Of Cf, Clinical Manifestations In Cf, Treating Cf, Gene Therapy For Cf