Dados do Trabalho

Title

INFLUENCE OF GENETIC MAPPING NOWADAYS

Objective

The objective of the present study is to analyse the influence of genetic mapping nowadays.

Methods

It is a narrative review of 10 articles published in English and Portuguese on (PubMed, Scielo, LILACS) platforms between 1995 and 2023.

Results

The Human Genome Project was formally initiated in 1990 and ended in April 2003, with the aim of sequencing the 3.1 billion nitrogenous bases of the human genome, which characterizes the set of DNA of a living being. DNA is composed of a sequential bond of nucleotides formed by a chemical bond between deoxyribose and a nitrogenous base, which can be an Adenine, Guanine, Thymine or Cytosine. The sequential order of these bases differentiates the molecular content that will be expressed in translation and transcription, which has a majority importance for the overall functioning of an organism. In this context, the discovery of the sequencing of the bases by the project, manifested enormous scientific advance for a deeper understanding of the human genetic code, through genetic mapping.
Genetic mapping, or genetic sequencing, consists of the analysis of DNA extracted from a person, to genotypically, discover changes that can be expressed in the phenotype of the individual. Understanding chromosomal and gene structure provides the possibility of diagnosis, treatment, and prevention of genetic diseases. In addition, genetic mapping is extremely relevant for the identification of variations associated with hereditary diseases, which may present late manifestation. This provides a more accurate and sometimes early diagnosis, which presents to the patient and their family the possibility of genetic counseling and taking early precautions in some cases.
In addition, genetic mapping has been a remarkable tool for the development of personalized therapies. By doing the analysis of the genotypic profile of the patient, professionals can present to which, the most effective treatments and the risks according to the genome. This, in addition to enabling a more targeted therapeutic approach to the treatment of several diseases, demonstrates a more hopeful path for the future of treatments.
On the other hand, another considerable aspect is the fact that once the genetic sequencing of populations is done, it is possible to analyze the genetic profile of distinct people, who share similarities, identifying genetic patterns more prevalent in certain regions and ethnic groups. The collection of this information is essential in helping to understand genetic diversity, susceptibility to diseases, responses to drugs and the evolutionary theory of the human being.
Similarly, studies related to how lifestyle and environmental conditions interact with human genetics have benefited from genetic mapping. This area of study related to how different environments generate the activation or deactivation of genes is called functional genomics. With this, it becomes possible to adopt personalized preventive measures for each individual based on their genetic profile, such as lifestyle changes, generating health benefits.

Conclusion

In short, it is possible to affirm that genetic mapping plays a fundamental role today, to allow a detailed understanding of the genetic constitution of the human being. Genetic sequencing was able to generate advances in scientific and technological research, and especially in the context of the medical sphere and in the understanding of the complexity of the health-disease process. Due to the potential for personalized therapies, prevention, early discovery of diseases, more accurate diagnoses, it is possible to affirm that genetic mapping is the beginning of the path to the future of treatments and an approach focused on the needs of each patient, in an individualized and effective way in health care.

Keywords

Genetic mapping, genetic sequencing, genome, treatment, therapy, gene, hereditary diseases, genetic profile