Hereditary Haemochromatosis Lab Report

Decent Essays
According to The Australian Handbook for General Practitioners, 2007: “Hereditary haemochromatosis (HH) is a common condition in which excessive iron absorption leads to greatly increased body iron stores.” In other words, haemochromatosis is made by the dysfunction of Human hemochromatosis (HFE) gene to create the misshapen HFE protein. The HFE gene, which is found on immune system cells, supplies order in order to produce protein situated on the primarily liver, surface of cells and intestinal cells. The HFE protein connects to other proteins on the cell surface to discover the quantity of iron in the body. Moreover, it control the product of hepcidin, which is seen as the “master” iron regulatory hormone and it can calculate the amount…show more content…
Then, in the second steps of PCR, which is Annealing, PCR copies only a particular order of genetic code, aimed by 2 PCR primers, which is used for 2 single DNA strands. During step two, the temperature is lowered to about 58 degrees Celsius in order to allow two primers to attach. In the end of step two, the two strands are ready to be duplicated (Paraphrase from here). In the third phase of the reaction, which is extension, the temperature is increased to 72 degrees Celsius. At the beginning, nucleotides are added to the annealed primers by the DNA polymerase to create a new strand of DNA complementary to each of the single template strands. Moreover, in 3’ to 5’ direction, the polymerase attaches to the primer and base pairs in order to reform original structure and form hydrogens bonds. When the mixture continues to be reheated, it will keep the cycle running until primers and nucleotides is enough to synthesize new strands. (Reference)
PCR is an efficient molecular genetic diagnostic process. However, there are 4 main reasons that can make this diagnosis failing to give a precise result, which are the carry of PCR inhibitors in sample, the lack of optimization of the PCR primer and probe design, the lack of investigation in standard curve and the inaccurate sample and reagent pipetting (reference).
To deduce the carrier status of Bella, there is another genetic-based test to be performed, which is restriction enzymes. Restriction enzymes act as a molecular scissors that cut enzyme at particular sequences in order to produce either sticky ends or blunt ends. Between sticky ends, these molecules connect with each other. Thus the recombinant DNA is
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