Sickle Cell Anemia Research Paper

Sickle cell anemia is an “inherited disease of the red blood cells characterized by sickle-shaped red blood cells”. The sickle-shaped cells are more stiff than normal red blood cells, so they cannot pass through capillaries, which results in blockage and restricted blood flow, which leads to pain and organ damage. Sickle cells are more easily broken than normal cells, so they are more likely to undergo hemolysis. Hemolysis is the breaking open of red blood cells, which released hemoglobin, a “major protein produced by [these] cells”. Hemoglobin transports oxygen from the lungs to the tissues in the body. When a large amount of red blood cells undergo hemolysis, it causes anemia. As a result, there is less oxygen delivered to tissues, which …show more content…
To test for sickle cell anemia, a restriction enzyme, Mst II, is used. The recognition site of Mst II is CCTNAGG, where N can represent any of the four nucleotides. This restriction site can be found in normal hemoglobin, but is not found in sickle cells because the mutation changes the sequence to CCTNTGG. If the restriction enzyme locates this restriction site, it cuts the DNA strand into two smaller fragments. In sickle cell carriers, one DNA strand is cut, while the other is not. This results in three different strands. DNA has a negative charge because of the oxygen in the phosphate base, thus it will travel towards an object with a positive charge. Ethidium bromide, EtBr, attaches to DNA through intercalation. EtBr intercalated into DNA fluoresces and glows orange when exposed to a UV light. Once the gel was exposed to UV light, the DNA strands were easily visible. Sample A, the strand with sickle cell anemia, only showed one DNA strand. Sample B, the sickle cell anemia carrier, showed three DNA strands. Sample C, the unaffected sample, showed two DNA strands. Sample D, the mother’s sample, showed three DNA strands. Sample E, the child’s sample, only showed one DNA strand. Sample F, the father’s sample, showed three DNA strands. The mother and father’s samples matched the results of Sample B, the sickle cell carrier. Thus, the mother and father are carriers. The child’s sample matched the results of Sample A, the strand with sickle cell anemia. Thus, the child has sickle cell anemia. This evidence is important because it clearly shows that the mother and father are carriers, and that the child has sickle cell anemia. The mother and father each have one mutated copy of the gene. Therefore, one of the DNA strands was cut by the restriction enzyme, but the other was not. This is why the mother and father’s results both showed three glowing bands. The child contains two copies of the mutated gene, one from each

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