Question
Asked Nov 3, 2019

The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions. Let us assume that if at least 5% normal channels are present, the affected individual has mild symptoms of cystic?

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Step 1

Cystic fibrosis is a genetic disease that occurs due to inactivity of cystic fibrosis transmembrane conductance regulator resulting in defective movement of chloride ions to the cell surface. The movement of chloride ions is important in controlling movement of water in tissues for producing mucus. Inability to do so, leads to presence of very sticky and thick mucus on the surface of affected organs.

Step 2

This protein acts as a channel in the cells that produces digestive enzymes, tears, saliva, sweat and mucus. It also regulates other channels such as those of sodium ion channel (necessary for the functioning of organs like pancreas and lungs).

Step 3

The mutated gene responsible for this disease is CFTR which is a recessive mutation. Affected people with cystic fibrosis have homozygous condi...

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