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Cystic Fibrosis

Cystic Fibrosis. Gastrointestinal Tract and the Sweat Ducts Jason A. Ford. Cystic Fibrosis. Autosomal Recessive Gene that affects 1 in 3,200 births Multiple Symptoms Chronic Lung Disease Extreme Stomach pain and digestive problems Increased salt concentration in sweat

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Cystic Fibrosis

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  1. Cystic Fibrosis Gastrointestinal Tract and the Sweat Ducts Jason A. Ford

  2. Cystic Fibrosis • Autosomal Recessive Gene that affects 1 in 3,200 births • Multiple Symptoms • Chronic Lung Disease • Extreme Stomach pain and digestive problems • Increased salt concentration in sweat • Enlarged liver and spleen • Infertility in men and women. • Life expectancy is about thirty years.

  3. Chromosome 7 • Location of the CFTR gene is 7q31.2 • The intron free mRNA transcript is about 6129 base pairs • The protein is 1,480 amino acids. • The mutated lacks one codon for Phenylalanine causing this amino acid to be absent. The U.S. Department of Energy Biological and Environmental Research program

  4. CFTR Protein Function • Normal function allows Chloride ions to move freely through the membranes. • The mutated form does not allow these ions to pass as easily. Human Genetics, Ricki Lewis (1994), Wm. C. Brown

  5. Gastrointestinal Tract Genesis Health Services

  6. Gastrointestinal Tract • Malnutrition • Delayed Growth or Poor Growth • Weight loss • Pancreatic Insufficiency

  7. Sweat Ducts • The sweat glands reside in the dermis layer of the skin • Two Types • Eccrine • Apocrine

  8. Sweat Ducts Molson Medical Informatics, McGill University

  9. Sweat Ducts • Defective Chloride channels in the sweat ducts • Loss of excessive salt in the sweat.

  10. References • http://www.brown.edu/Courses/Digital_Path/Pancreas/cystic_fibrosis.htm • http://www.wrongdiagnosis.com/c/cf/symptoms.htm • The U.S. Department of Energy Biological and Environmental Research program • http://kidshealth.org/parent/medical/lungs/cf.html • Human Genetics: Concepts and Applications by Ricki Lewis (1994), Wm. C. Brown • 2000 - Molson Medical Informatics, McGill University

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