Improper protein targeting in the cell can lead to diseases such as cystic fibrosis. The product of normal CFTR gene codes for a chloride transporter localized to the cell membranes (shown right) of airway epithelium that is responsible for pumping chloride ions outside of the cell and creation of watery mucus. One of the possible mutations in CFTR gene that causes cystic fibrosis causes the resulting protein to remain in the ER and never insert into the cell membrane. This leads to impaired Cl- transport and dense mucus blocking the airways, the major symptom of cystic fibrosis. If you were to sequence CFTR gene, what sample would be appropriate to obtain from a patient? Only from a respiratory epithelium biopsy Only from the secreted mucus in the airway Only from a red blood cell sample Any accessible tissue sample available
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Cystic fibrosis (CF) is an inherited disorder caused by different types of mutations, many of which prevent ions from moving across cell membranes. Normally there are channel proteins that allow passage of the ions, but in patients with one kind of CF these proteins seem odd. Closer examination shows that these proteins display the correct amino acid sequence. However, they fail to do their job. A) Given that the primary structure of the protein is correct, what can you infer about the DNA sequence of this patient, is there a mutation? Explain. B) Why is the primary structure insufficient to guarantee the proper function of the protein?
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A group of scientists were using CRISPR to treat a mouse with cystic fibrosis, a disease caused by a defective Cl- channel protein called CFTR. The most common cause of cystic fibrosis in humans is the absence of a phenylalanine, an amino acid, in the CFTR protein, which prevents CFTR from achieving the correct 3-D structure. If the scientists wished to repair this mutation, how would they alter the mutated CFTR gene before using CRISPR to insert the DNA into the mice? A. Fix the frameshift mutation by removing a thymine from the correct location in the CFTR gene. B. Fix the deletion mutation by inserting three adenines into the correct location in the CFTR gene. C. Fix the point mutation by inserting a cysteine and removing an adenine from the correct location in the CFTR gene. D. Fix the inversion mutation by removing a fourteen-nucleotide stretch, turning it around, and then re-inserting it into the correct location in the CFTR gene.
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