(1) Cystic fibrosis is caused by the absence from apical cell membranes of funct
ID: 257819 • Letter: #
Question
(1) Cystic fibrosis is caused by the absence from apical cell membranes of functional chloride ion channels that are encoded by the CFTR gene. Which of the following mutations might be a cause of cystic fibrosis? (a) Deletion of the CFTR gene. (b) A mutation in the gene encoding arginine-specific tRNA that causes the protein synthesis machinery to incorporate arginine in growing polypeptide chains in response to serine codons. Substitution of arginine for serine in the CFTR protein makes it non-functional. (c) A mutation in the promoter of the CFTR gene that abolishes its ability to recruit the RNA polymerase machinery. essential serine with a non-functional arginine. spliceosome that causes the splicing machinery to treat GA...AG as the (d) A mutation in the coding sequence of the CFTR gene that replaces an (e) A mutation in one of the small non-coding RNA molecules in the signal for the start and end of introns, instead of GT... AG (f) A mutation in the RNA polymerase II gene that renders the polymerase non-functional. (g) A mutation in the coding sequence of the CFTR gene that causes the ion channel to transport excessive quantities of chloride ions.Explanation / Answer
Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR (Cystic fibrosis transmembrane conductance regulator) gene. CFTR acts as a chloride channel and its mutation will lead to dysregulation of epithelial fluid transport especially in the lungs and pancreas. The mutations which can cause cystic fibrosis are,
Therefore, the answers for this question are options a, d and g.
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