CNVs de novo no cromossomo x da prole em resposta a exposição parental a baixas doses de radiação ionizante
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2019-03-11
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Universidade Federal de Goiás
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A radiological accident occurred in Goiânia-GO in 1987, exposed hundreds of people at high
and low doses of ionizing radiation. When there is this type of exposure, the cells can undergo
chemical, physical and biological damage, also causing genomic damage ranging from
nucleotide exchange to double-strand breaks. In order to repair such DNA damage, repair
processes are activated by recombining the genome and can bring about several genomic
changes, such as variations in the number of copies, which arise from mutational events and
are mostly normal or disease-causing variations. to some factor (again) or inherited. This
study analyzed CNVs again on the X chromosome of individuals whose one of their parents
had accidental exposure to low dose 137Cs (≤ 0.2Gy). The group consisted of 8 families with
at least one parent exposed, resulting in a total of 12 children born after exposure to low dose
ionizing radiation and 10 families with no history of radiation exposure to make up the control
group. After blood collection, chromosome analysis was performed on microarray (CMA) using
GeneChip® CytoScanHDTM (Affymetrix, USA) and soon after the X chromome analysis was
performed using ChAS® software followed by statistical analysis. In the exposed group, 251
CNVs were found again on the X chromosome, an increase of about 2.5x compared to the
control group and CNVs gain was 4.3x higher in the exposed group (p = 0.003). When the
parental origins were observed, 50% of new and validated CNVs are of maternal origin and in
most families the mother was accidentally exposed to IR. However, this study allowed to
observe a higher rate of genomic gains in relation to X chromosome losses in the offspring of
individuals exposed to low doses of ionizing radiation. Maternal age was shown to be related
to the CNV rate of loss in the offspring. However, the increase in CNVs again may be
indicative that the radiation has increased the rate of DNA damage after parental exposure. In
the literature there is no information on CNVs on the X chromosome of individuals exposed to
radiation, making this work unprecedented.
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RODRIGUES, L. H. N. S. CNVs de novo no cromossomo x da prole em resposta a exposição parental a baixas doses de radiação ionizante. 2019. 79 f. Dissertação (Mestrado em Genética e Biologia Molecular) - Universidade Federal de Goiás, Goiânia , 2019.