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  • Essay / Mutations in exons of a gene and its phenotic expression

    Introduction Nowadays, molecular biology is gaining more and more popularity, which begins to gain great importance in medical sciences in recent years. She is responsible for studying DNA, which allows us to do this. to detect with great efficiency and give a complete diagnosis of what happens to our patients, as this becomes important, it has been possible to carry out a precise diagnosis of certain pathologies that are difficult to detect, either due to the time required to achieve it its diagnosis in certain species of neoplasms and bacteria with greater certainty (Bray, 2006. In addition, molecular techniques allow us to study DNA in such a way that they allow us to detect changes present in it, like the mutations in which). They confer great scientific importance because when they produce a change in the genetic material, we obtain a bad protein which can lead, for example, to a failure of certain biological systems which will lead to pathology or neoplasia, but another example of this They are bacteria that, thanks to these mutations, become resistant in their phenotype to the main antimicrobials used for them. (Bray, 2006) Genetic material is distributed in chromosomes which contain genes and these in turn are composed of promoter regions, intronic regions and exonic regions whose expression is regulated by a protein or regulatory region (Passarge, 2006/31). 2009). Exons and introns are the parts of a gene that, once transcribed, are converted into mRNA, which undergoes a maturation process called splicing. These lose their introns and only the exons remain, which carry the information. acids for its protein production (Passarge, 08/31/2009. For this reason, a mutation in an exon causes a change in the structure of a protein, which leads to it being wrong or ending earlier and that a protein is obtained without). a biochemical effect on the body.0This image shows the extracted DNA structure (Cuenca Berger & Morales Montero, Unstable Mutations: cause of some hereditary neurological Diseases, 1999) of the p53 gene and cancer; It is one of the main repressors of cells with damage to their DNA since the function of its protein is to prevent the transition from the G0 to G1 phase and thus to avoid the cell cycle so that the DNA fragment affected can be corrected. or activates apoptosis or programmed cell death.