Miss Chiu
AP Bio CF Case Study
March 19, 2015
Questions:
1. Currently, scientists believe that Cystic Fibrosis is caused by a defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat. Every person inherits two CFTR genes—one from each parent. Children who inherit a faulty CFTR gene from each parent will have CF. Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children. More than a thousand known defects can affect the CFTR gene. The type of defect you or your child has may affect the severity of CF.
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3. In people with CF, there is an altered Chlorine channel and this Chorine channel cannot go out to the cell surface and then the cell cannot secrete water (due to the fact that Chlorine should go out of the cell and water should join the Chlorine in this movement), so the result is thick mucus and predisposition of infections.
4. Alvin has salt crystals forming on his skin due to the high content of sodium in his body, which is seen in his sweat after it dries. When there is little to no more liquid in his sweat, all that is left is the sodium crystals, which then become visible.
5. Three treatments that are recommended are regularly scheduled doctor visits and immunizations, respiratory therapy, and digestive therapy:
Doctor Visits and Immunizations: In having regular appointments, a doctor will record the child's weight, height, and head size in order to keep track of how your child is developing over time. Having lab tests done for the child is