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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• Enlarged liver and spleen• Infertility in men and women.
• Life expectancy is about thirty years.
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
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
Gastrointestinal Tract
Genesis Health Services
Gastrointestinal Tract
• Malnutrition
• Delayed Growth or Poor Growth
• Weight loss
• Pancreatic Insufficiency
Sweat Ducts
• The sweat glands reside in the dermis layer of the skin
• Two Types– Eccrine– Apocrine
Sweat Ducts
Molson Medical Informatics, McGill University
Sweat Ducts
• Defective Chloride channels in the sweat ducts
• Loss of excessive salt in the sweat.
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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