Sickle Cell Anemia Case Study

Sickle cell anemia is a genetic disease that affects the shape and functionality of red blood cells. It is caused by a mutation in the DNA of the protein, hemoglobin, specifically in the beta chain. There are 531 base pairs in this DNA strand. Substitution or point mutation occurs, causing “GAG” to become “GTG”. This results in valine being created instead of glutamate. The mutation causes the hemoglobin to cling together in low oxygen levels and the red blood cell changes shape, preventing it from carrying as much oxygen. The red blood cell affected are misshapen, cannot transport as much oxygen, and have shortened life spans. If only one of the chains is affected, then the individual is a carrier and could pass it on to their offspring. The guiding question of
Each individual had two samples: one with a restriction enzyme added, and one without (controls) and a marker DNA was split at specific intervals to measure the others. The restriction enzyme used is BSU36I. It targets a specific sequence of DNA and cuts it at a specific point if the proper sequence is identified. In this case, the BSU36I cuts the DNA if it finds the sequence, “C C T N (any base) A G G.” The enzyme would cut in between “C” and “T”. The mutation in sickle cell anemia causes the A to change change to a T. Instead of splitting the DNA into two strands (200 and 331 base pairs long), the restriction enzyme will pass over it, leaving it at a longer 531 base pairs. A buffer was added to all of the samples to balance the pH, and BSA (Bovine Serum Albumin) was added to keep the sample from adhering to the sides. Ethidium Bromide was added to make it glow under UV light. The samples were placed in their own, separate chambers at one end of the agarose gel,