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Is there an explanation of the cystic fibrosis gene?


Cystic fibrosis is an autosomal recessive genetic disorder. The condition results from a mutation of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. The cystic fibrosis gene is located on chromosome 7 (7q31.2). More precisely, the gene is located on the long arm in the q31.2 region of chromosome 7 [source: Human Genome Project].

Cell membranes have protein channels that allow the flow of substances through a cell. These channels act as gateways for sugars, peptides, inorganic phosphate and other chemicals. The CFTR gene provides the body with instructions for how to make a specific protein. This protein is located on cell membranes and acts as a channel responsible for the transportation of chloride. CFTR is responsible for chloride transportation in and out of cells located in the lungs, liver, pancreas, digestive tract, reproductive tract and skin. The balanced flow of chloride in and out of cells is essential for the production of thin, flowing mucus in the body.

A mutation of the CFTR gene results in problems with the creation of the chloride channel. This causes problems with regulating chloride and water inside and outside cells throughout the body. In someone with a CFTR gene mutation, cells with dysfunctional chloride channels coat the lungs, pancreas, and other major organs, resulting in excessively thick and sticky mucus. This thick mucus leads to blocked airways, intestinal problems, reproductive issues, and excessive chloride in sweat, all of which are characteristic symptoms of cystic fibrosis.

A mutation of the CFTR gene results in problems with the creation of the chloride channel. This causes problems with regulating chloride and water inside and outside cells throughout the body. In someone with a CFTR gene mutation, cells with dysfunctional chloride channels coat the lungs, pancreas, and other major organs, resulting in excessively thick and sticky mucus. This thick mucus leads to blocked airways, intestinal problems, reproductive issues, and excessive chloride in sweat, all of which are characteristic symptoms of cystic fibrosis.


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