People affected by Cystic Fibrosis do not look any different from other people. Because the effects of CF are mostly internal, there are no clear visual indicators that someone suffers from Cystic Fibrosis, but there are other ways to tell. Frequent coughing, susceptibility …show more content…
This protein acts a channel for mucus, saliva, and other fluids in the body. The mutated CFTR protein is not as functional as it should be, leading to thicker and stickier mucus that blocks up the body’s passages.
Cystic Fibrosis is an autosomal recessive disease. For a person to have the disease, both parent must either have Cystic Fibrosis or be carriers for the disease.
Cystic Fibrosis Transmembrane Conductance Regulator, or the CFTR gene, is located on chromosome 7. While there are about 1,700 different mutations of the CFTR gene that can cause cystic fibrosis, the most common mutation is due to the deletion of a single amino acid located at position delta F508 on the CFTR gene.
When newborns have their newborn screening test, Cystic Fibrosis is one of the many disorders that are tested for. Another test that can be used to confirm the diagnosis is a sweat test. This test is performed because there is more sweat produced because of the disorder. Other tests include genetic tests, to see if both parents have the disorder or are carriers, chest and sinus x-rays, lung infection tests, and a sputum culture test, which is a test that looks at the