Evidência do aumento de desvios mendelianos mediante análise transgeracional de mutações germinativas em população exposta à radiação ionizante de Césio-137

• Autor(a) principal: Oliveira, Lorraynne Guimarães
• Data de Publicação: 2022
• Tipo de documento: Tese
• Idioma: por
• Título da fonte: Repositório Institucional da UFG
• dARK ID: ark:/38995/0013000007h5s
• Texto Completo: http://repositorio.bc.ufg.br/tede/handle/tede/12364
• topic: Bioinformática; SNVs; Genotipagem; Desvio mendeliano; Bioinformatics; SNVs; Genotyping; Mendelian deviation; CIENCIAS BIOLOGICAS::GENETICA

On September 13th, 1987, the largest radiological accident in urban areas occurred in Goiânia, Goiás (Brazil), resulting in human, animal, plant and environmental exposure by Cesium-137. The mutagenic effects on the germline of people exposed to ionizing radiation are of particular concern, as the risk of inherited disorders can be increased. Single Nucleotide Variants are the most common form of human genetic variation and occur in greater abundance in a non-coding region and in recent years, several technologies have been developed to identify these variants. One of these technologies is Next-Generation Sequencing, which offers greater amounts of data, shorter sequencing times and reduced costs. The objective of this work is to establish the spectrum and frequency / rate of base de novo substitutions of germ origin from the trio's new generation sequencing data, corresponding to an F1 generation child and his biological parents, accidentally exposed to high and low doses of IR of cesium-137, contributing to knowledge about the biological effects of exposure to ionizing radiation. Considering case and control, the results of 38 parents, and an offspring of 14 children born from the exposed group and 5 children from the unexposed population were included. Exposed individuals had ~39% increase in global mean DMs compared to controls. Exposed mothers had ~44% increase in global mean DMs compared to controls. The A:T>C:G mutation was the one that showed the greatest statistically significant increase in occurrence in the offspring of exposed individuals. Transition replacement rates were higher than transversions in the offspring of cases and controls, but the difference is not statistically significant. In conclusion, with the methodology and biomarkers used, it was possible to identify the origin of mutation in the parents, as well as the type of substitution and to inform which variant was mutated, it was also possible to detect the frequency of the germline mutation in DM which made it possible to retrospectively study this population exposed to IR.