Case Study: Abnormal Cystic Fibrosis Proteins

1) A.) The specific DNA changes caused by the delta F508 mutation, include a production of the abnormal cystic fibrosis protein. This mutation can only be inherited if both genes in pair of DNA carry the cystic fibrosis mutation. The specific mutation functions as a chloride channel, that has an abnormal amount of salt and water balance. Normally a chloride channel would help to maintain the right balance salt and water inside a cell, but those mutated with F508 mutation, are imbalanced causing dehydration of the mucous and an excessive loss of salt in sweat (Stanford, 2016). B.) The delta F508 mutation had significant effects on lung cells, including both structural and functional. This mutation causes a deletion of a single amino acid at the 508 position in the CFTR protein, which results in …show more content…
In evolution, for example, mutations are necessary for natural selection to take place, and for species to be able to better adapt to their environment. B.) A mutation in a gamete would have more profound biological consequences than a mutation in a somatic cell because gametes are sex cells and will determine the outcome of the offspring, and depending on the type of mutation could profoundly affect the organism that is produced. However, a single mutation in a somatic cell would have less profound consequences because it may possibly just affect the tissues (organ) that consists of the mutated somatic cells. C.) A more profound biological impact would occur if a delete/insertion were to happen more towards the beginning of the gene. This would be the case because if one or more bases are added or taken away, it will affect the corresponding base that gets bonded with that nucleotide, and the grouping of amino acid (codons) that will follow, for the rest of the gene length. This would change the protein that results from the sequence of amino