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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Saturday, July 5, 2008
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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Saturday, July 5, 2008
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Cystic Fibrosis |
Genetic component of cystic fibrosis02/03/2008 07:51AM |
Is the genetic component of cf ever beneficial? If so, how? Thank you.
The CF gene is responsible for producing a protein, cystic fibrosis transmembrane conductance regulator (CFTR). People who carry only 1 copy of abnormal CFTR are heterozygotes, or "carriers", have no symptoms of CF. Patients with CF have 2 defective copies of the CFTR gene.
The fact that this disease is common in Caucasian populations suggests that there may be a "heterozygote advantage" to the CF mutation. It has been proposed that CF heterozygotes may be protected from the secretory diarrhea caused by cholera toxin. Although this hypothesis has not been fully proven, studies in the mouse model do support the idea.
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Patricia Joseph, MS, MD Associate Professor of Medicine Pulmonary, Critical Care & Sleep Medicine Department of Internal Medicine College of Medicine University of Cincinnati |
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