Jornal de Proteômica e Bioinformática
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The Need for Early Detection of the Prototype Mutants: Sickle Cell Anemia as a Case Study

Amro Abd Al Fattah Amara

It is basic knowledge that three of the DNA nucleotides are code for one amino acid. That cause some sort for protection, while in many cases one nucleotide change did not lead to a new amino acid (silent mutant). However, we should not neglect such silent mutant particularly if it has happened in a sensitive gene such as β-globin. Such silent mutant is the base for a complete mutant, which might cause severe disease. Because protein is the macromolecules, which responsible for most of the cell functions, most studies are done so far on the protein level including, comparing protein sequences. Genetic diseases could be happened due to one nucleotide change, which could be responsible about causing dramatic illness such as the Sickle cell anemia. However, sometimes there is a need for two or even three nucleotide changes to mutate a single amino acid. Such change(s) might take longer or even generations to be happened. Alternatively, it can be simply avoided. The expected mutant can be early detected during its prototype phase. Such prototype mutation should be detected before it completely changes to full mutation. In this study, an investigation among the protein and the DNA sequences has been done aiming to prove that DNA is more suitable for detecting genetic disease and prototype mutants.