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Group Names & Student IDs (for participation mark): Writing Exercise to Hand In (Based on Problem 4.4.1): Cystic Fibrosis is a genetic disorder in which patients lack a Cl- channel (known as the CFTR protein). As a result of the loss of this channel, patients suffer a variety of symptoms, including progressive loss of lung function, which leads to death. There are several mutations in CFTR that can result in the disease. In many of them the protein is translated, but never makes it to the plasma membrane. Work with your neighbour to come up with two ways that this could happen that are directly related to the function of endomembrane system. Write down your answers on a piece of paper and hand them in before you leave. We'll start next class with a clicker based on your answers. 1.

Answer 1

1. The most common mutation that causes CF is deletion of 3 nucleotides from CFTR gene which codes for the amino acid phenylalanine at the 508th position of the protein. This changes the the conformation of the protein.

2. Other mutation causes production of very short protein due to premature end of transcrition.

3. Some mutation also causes changes in the CFTR protein structure and thus do not allow passage of chloride, iodide, thiocyanate ion through them.