Mutations in the CFTR gene result in cystic fibrosis in humans, a conditions in which abnormal secretions are present in the lungs, pancreas, and sweat glands.  The gene was mapped to a 500-kb region on chromosome 7 containing 3 candidate genes.a)Using your knowledge of the disease symptoms, how would you distinguish between the candidate genes to decide which is most likely to encode the CFTR gene?b)How would you prove that your chosen candidate is the CFTR  gene?

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Asked Nov 18, 2019
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Mutations in the CFTR gene result in cystic fibrosis in humans, a conditions in which abnormal secretions are present in the lungs, pancreas, and sweat glands.  The gene was mapped to a 500-kb region on chromosome 7 containing 3 candidate genes.

a)Using your knowledge of the disease symptoms, how would you distinguish between the candidate genes to decide which is most likely to encode the CFTR gene?

b)How would you prove that your chosen candidate is the CFTR  gene?

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Expert Answer

Step 1

Cystic fibrosis is a hereditary disorder that basically affects the digestive system and lungs of the person. In this condition, the body produces thick and sticky mucus, which clogs the lungs and pancreas, part of the digestive system. This disease is caused due to the mutation in the CFTR gene (cystic fibrosis transmembrane conductance regulator).

Step 2

a) CFTR is a chloride channel and membrane protein that is translated from the CFTR gene. The function of the CFTR gene is to encode ion channel of ABC transporter-class protein that helps in the conduction of chloride ions across cells of the epithelial tissue.

Hence, w...

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