Deviation from Mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation.
Adolescent
Adult
Amino Acid Substitution
Case-Control Studies
Cesium Radioisotopes
/ adverse effects
Child
Child, Preschool
Disasters
Female
Genotyping Techniques
/ methods
Germ-Line Mutation
Humans
Infant
Male
Mendelian Randomization Analysis
Middle Aged
Pedigree
Polymorphism, Single Nucleotide
Radiation Exposure
/ adverse effects
Radiation, Ionizing
Radioactive Hazard Release
Retrospective Studies
Young Adult
Journal
PloS one
ISSN: 1932-6203
Titre abrégé: PLoS One
Pays: United States
ID NLM: 101285081
Informations de publication
Date de publication:
2020
2020
Historique:
received:
15
05
2020
accepted:
09
10
2020
entrez:
27
10
2020
pubmed:
28
10
2020
medline:
13
11
2020
Statut:
epublish
Résumé
We aimed to estimate the rate of germline mutations in the offspring of individuals accidentally exposed to Cesium-137 ionizing radiation. The study included two distinct groups: one of cases, consisting of males and females accidentally exposed to low doses of ionizing radiation of Cs137, and a control group of non-exposed participants. The cases included 37 people representing 11 families and 15 children conceived after the accident. Exposed families incurred radiation absorbed doses in the range of 0.2 to 0.5 Gray. The control group included 15 families and 15 children also conceived after 1987 in Goiânia with no history of radiation exposure. DNA samples from peripheral blood were analyzed with the Affymetrix GeneChip® CytoScanHD™ to estimate point mutations in autosomal SNPs. A set of scripts previously developed was used to detect de novo mutations by comparing parent and offspring genotypes at the level of each SNP marker. Overall numbers of observed Mendelian deviations were statistically significant between the exposed and control groups. Our retrospective transgenerational DNA analysis showed a 44.0% increase in the burden of SNP mutations in the offspring of cases when compared to controls, based on the average of MFMD for the two groups. Parent-of-origin and type of nucleotide substitution were also inferred. This proved useful in a retrospective estimation of the rate of de novo germline mutations in a human population accidentally exposed to low doses of radiation from Cesium-137. Our results suggested that observed burden of germline mutations identified in offspring was a potentially useful biomarker of effect to estimate parental exposure to low doses of IR and could become an important marker suitable for biomonitoring human population exposed to environmental mutagens.
Identifiants
pubmed: 33108378
doi: 10.1371/journal.pone.0233941
pii: PONE-D-20-14438
pmc: PMC7591025
doi:
Substances chimiques
Cesium Radioisotopes
0
Cesium-137
4T2E65IAR7
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e0233941Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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