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

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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 creas/cystic_fibrosis.htmhttp:// creas/cystic_fibrosis.htm tmhttp:// tm The U.S. Department of Energy Biological and Environmental Research program Human Genetics: Concepts and Applications by Ricki Lewis (1994), Wm. C. Brown Molson Medical Informatics, McGill University