Title: Elevated Minisatellite Mutation Rate in the Post-Chernobyl Families from Ukraine
Author: Yuri E. Dubrova, Gemma Grant, Anatoliy A. Chumak, Vasyl A. Stezhka, Angela N. Karakasian
Reference: Am. J. Hum. Genet. 71:801–809, 2002
DOI: http://dx.doi.org/10.1086/342729
Keywords:Germline mutation, minisatellite, Ukraine
Abstract: Germline mutation at eight human minisatellite loci has been studied among families from rural areas of the Kiev and Zhitomir regions of Ukraine, which were heavily contaminated by radionuclides after the Chernobyl accident. The control and exposed groups were composed of families containing children conceived before and after the Chernobyl accident, respectively. The groups were matched by ethnicity, maternal age, parental occupation, and smoking habits, and they differed only slightly by paternal age. A statistically significant 1.6-fold increase in mutation rate was found in the germline of exposed fathers, whereas the maternal germline mutation rate in the exposed families was not elevated. These data, together with the results of our previous analysis of the exposed families from Belarus, suggest that the elevated minisatellite mutation rate can be attributed to post-Chernobyl radioactive exposure. The mechanisms of mutation induction at human minisatellite loci are discussed.
URL: http://www.sciencedirect.com/science/article/pii/S0002929707603668
Title: Mini-and microsatellite mutations in children from Chernobyl accident cleanup workers
Author: Robbert J.C Slebos, Ruth E Little, David M Umbach, Yurij Antipkin, Tamara D Zadaorozhnaja, Nikola A Mendel, Courtney A Sommer, Kathleen Conway, Eloise Parrish, Sara Gulino, Jack A Taylor
Reference: Mutation Research/Genetic Toxicology and Environmental Mutagenesis, Volume 559, Issues 1–2, 11 April 2004, Pages 143-151
DOI: http://dx.doi.org/10.1016/j.mrgentox.2004.01.003
Keywords: Minisatellite, Microsatellite, Germline mutation, Chernobyl accident
Abstract: Knowledge about possible genotoxic effects of low-dose radiation on the human germline is limited and relies primarily on extrapolations from high-dose exposures. To test whether ionizing radiation can cause paternal genetic mutations that are transmitted to offspring, we enrolled families of 88 Chernobyl cleanup workers exposed to ionizing radiation. We analyzed DNA isolated from lymphocytes for mutations via DNA blotting with the multi-locus minisatellite probes 33.6 and 33.15 and via PCR in a panel of six tetranucleotide repeats. Children conceived before and children conceived after their father’s exposure showed no statistically significant differences in mutation frequencies. We saw an increase in germline microsatellite mutations after radiation exposure that was not statistically significant. We found no dependence of mutation rate on increasing exposure. A novel finding was that the tetranucleotide marker D7S1482 demonstrated germline hypermutability. In conclusion, our results do not support an increased level of germline minisatellite mutations but suggest a modest increase in germline mutations in tetranucleotide repeats. Small sample size, however, limited statistical power.
URL: http://www.sciencedirect.com/science/article/pii/S1383571804000099
