Directions: A mutation is a change in the genetic material (DNA). Sometimes a mutation will affect the expression of a gene in terms of the protein that is produced and sometimes it will not. For example, when you look at the mutation that causes Sickle Cell Anemia, you find a change in one nucleotide only. (As a reminder, your genetic material (DNA) is made of a long chain of nucleotides. A gene is a segment of DNA that encodes a specific protein or RNA.)

In the case of Sickle Cell Anemia, the change in one nucleotide in the entire nucleotide sequence, leads to a change in one amino acid produced through protein synthesis. This change, or mutation, causes a change in the protein produced (hemoglobin). Not only does this affect the protein produced, but it also affects the shape of the red blood cell (RBC) that holds the hemoglobin, and ultimately the overall function of this cell type in a negative way. You may remember from your earlier reading that red blood cells are disk-shaped cells packed with hemoglobin. Hemoglobin is a protein that will hold on to and carry oxygen to nourish the cells of your body as RBCs travel through your cardiovascular system. What may seem like a small change, mutation, in this gene has a profound effect on the function of the cell and the health of the individual that contains this mutation.

Identify one genetic disorder that is caused by a mutation. In your initial post, please include:

  • the name of the genetic disorder
  • describe the effects of the disorder
  • identify the type of mutation that causes this disorder

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