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Entry Task: Educated Guess!
Genes are segments of DNA that code for RNA which codes for proteins. How do you think genes begin and end?
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Cystic Fibrosis
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Cystic Fibrosis Affects 30,000 Americans and about 70,000 people worldwide. In people with CF, a defective gene and its protein product cause the body to produce unusually thick, sticky mucus that: Clogs the lungs and leads to life-threatening lung infections. Obstructs the pancreas and stops natural enzymes from helping the body break down food and absorb vital nutrients.
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Cystic Fibrosis Pathology
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Cystic Fibrosis In the 1950s, few children with CF lived to attend elementary school. Since then, tremendous progress in understanding and treating CF has led to dramatic improvements in the length and quality of life for those with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond. Source: Cystic Fibrosis Foundation website
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Cystic Fibrosis Genetics
CF is caused by mutations in a gene that produces a protein, called CFTR. The CFTR protein controls the flow of salt and water in and out of the cells of organs like the lungs and pancreas. To have cystic fibrosis, a person must inherit two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene.
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The Cystic Fibrosis Transmembrane Conductance Receptor (CFTR) conducts chloride ions across epithelial cell membranes.
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CFTR Mutations
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Types of Genetic Mutations
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