カテゴリー「genetics / gene mutation」
Title: Mutation rates in Scots pine ( Pinus sylvestris L.) from the Chernobyl exclusion zone evaluated with amplified fragment-length polymorphisms (AFLPs) and microsatellite markers
Author: Kuchma, Oleksandra / Vornam, Barbara / Finkeldey, Reiner
Reference: Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 725 (1-2), p.29-35, Oct 2011
DOI: 10.1016/j.mrgentox.2011.07.003
Keywords: Mutation rate; Radiation; Pinus sylvestris; Microsatellites; AFLP; Chernobyl
Abstract: ► Somatic mutations in pines exposed to high radiation were investigated. ► Pines from the Chernobyl zone were compared to control material of the same origin. ► SSR and AFLP markers were used to reveal changes in mutation rates. ► No significant differences in the mutation rates of SSRs were observed. ► Three-fold increase in number of mutations was found by the use of AFLP markers.
URL: http://www.sciencedirect.com/science/article/pii/S1383571811002130
Title: Cytogenetic damage in lymphocytes of healthy and thyroid tumor-affected children from the Gomel region (Belarus)
Author: Roberto, Barale / Gemignani, Federica / Morizzo, Carmela / Lori, Adriana / Rossi, Annamaria / Antonelli, Alessandro / Di Pretoro, Giancarlo / (…) / Ballardin, Michela,
Reference: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 405 (1), p.89-95, Aug 1998
doi: 10.1016/S0027-5107(98)00118-3
Keywords: Chromosome aberration; Lymphocyte; Child; Thyroid tumor; Ionizing radiation; 137Cs; Chernobyl
Abstract: During 1994, 19 thyroid tumor-affected children and 17 healthy children from the Gomel region, one of the areas most polluted by the Chernobyl fallout, were analysed for (i) the presence of 137Cs in their urine and (ii) chromosome aberrations (CA) in circulating lymphocytes. They were compared with 35 healthy children from Pisa, Italy. Tumor-affected children showed significantly (p < 0.05) higher 137Cs levels in their urine as compared to healthy controls from the Gomel region. No radioactivity was found in urine from the Pisa controls. CA frequency was significantly higher in tumor-affected children compared to the Gomel controls, but was not significantly different between Gomel and Pisa controls. However, dicentric chromosomes were found in a significantly (p < 0.01) greater proportion in both affected and healthy Gomel children (3.4 and cells, respectively) as compared to the Pisa controls ( cells). Multiple regression analysis showed that the proportion of cells with acentric fragments, dicentric and ring chromosomes was significantly correlated (p < 0.05) with the amount of 137Cs excreted in their urine. These findings suggest that children from the Gomel region were still being exposed to radionuclides, which makes it possible to study a dose-effect relationship.
URL: http://www.sciencedirect.com/science/article/pii/S0027510798001183
Title: Chromosome aberrations in lymphocytes and clastogenic factors in plasma detected in Belarus children 10 years after Chernobyl accident
Author: Gemignani, Federica / Ballardin, Michela / Maggiani, Francesca / Rossi, Anna M / Antonelli, A / Barale, Roberto
Reference: Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 446 (2), p.245-253, Dec 1999
doi: 10.1016/S1383-5718(99)00194-1
Keywords: Chromosome aberrant cells; Lymphocytes; Clastogenic factors; Belarus; Chernobyl accident
Abstract: In 1996, 10 years after Chernobyl accident, a cytogenetic analysis was carried out to assess whether chromosome aberrant cells (CA) were still detectable in the lymphocytes and clastogenic factors (CFs) were present in the plasma of children coming from Gomel (Belarus), one of the most heavily contaminated regions. Furthermore, the possible contribution of plasmatic CFs to the amount of CA was investigated. The presence of CA was examined in the lymphocytes from 29 thyroid tumour-affected children and 41 healthy children (local controls). Thirty healthy children living in Pisa (Italy) were enrolled in the study as additional controls from an uncontaminated area….
URL: http://www.sciencedirect.com/science/article/pii/S1383571899001941
Title: Microsatellite mutations show no increases in the children of the Chernobyl liquidators
Author: Furitsu, Katsumi; Ryo, Haruko; Yeliseeva, Klaudiya G.; Thuy, Le Thi Thanh; Kawabata, Hiroaki; Krupnova, Evelina V.; Trusova, Valentina D.; Rzheutsky, Valery A.; Nakajima, Hiroo; Kartel, Nikolai; Nomura, Taisei.
Reference: Mutation Research/Genetic Toxicology & Environmental Mutagenesis. Mar2005, Vol. 581 Issue 1/2, p69-82. 14p.
DOI: 10.1016/j.mrgentox.2004.11.002.
Keywords: Radiation-induced germline microsatellite mutations; Liquidator; Chernobyl; Ionizing radiation
Abstract: We performed a study on Belarusian “liquidators”, exploring whether increase in the frequencies of germline mutations at microsatellite loci could be found in their progeny. The liquidators, mostly young males, were those involved (during 1986 and 1987) in clean-up operations in the radioactively contaminated area following the Chernobyl nuclear power plant accident in 1986. Many liquidators fathered children during the clean-up period and after the work had been terminated. The numbers of families studied were 64 (liquidators) and 66 (controls). A total of 72 loci (31 autosomal, one X-linked and 40 Y-linked) were used. DNA was isolated from peripheral blood lymphocytes and the microsatellite loci were amplified by the polymerase chain reaction with fluorescence-labelled primers. Mutations were detected as variations in the length of the loci.
URL: http://www.sciencedirect.com/science/article/pii/S1383571804003006
Title: Genome hypermethylation in Pinus silvestris of Chernobyl—a mechanism for radiation adaptation?
Author: Kovalchuk, Olga / Burke, Paula / Arkhipov, Andrey / Kuchma, Nikolaj / James, S.Jill / Kovalchuk, Igor / Pogribny, Igor
Reference: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 529 (1-2), p.13-20, Aug 2003
doi: 10.1016/S0027-5107(03)00103-9
Keywords:Chernobyl; Radiation; Pine; Stress response; Global genome methylation
Abstract: Adaptation is a complex process by which populations of organisms respond to long-term environmental stresses by permanent genetic change. Here we present data from the natural “open-field” radiation adaptation experiment after the Chernobyl accident and provide the first evidence of the involvement of epigenetic changes in adaptation of a eukaryote-Scots pine (Pinus silvestris), to chronic radiation exposure.
URL: http://www.sciencedirect.com/science/article/pii/S0027510703001039
Title: Delineating Chromosomal Breakpoints in Radiation-Induced Papillary Thyroid Cancer
Author: Heinz-Ulrich G. Weier, Yuko Ito, Johnson Kwan, Jan Smida , Jingly F. Weier, Ludwig Hieber, Chung-Mei Lu, Lars Lehmann, Mei Wang, Haig J. Kassabian, Hui Zeng, Benjamin O’Brien
Reference: Genes 2011, 2, 397-419; [PDF-768K]Jul 2011
doi: 10.3390/genes2030397
Keywords: Chernobyl; neoplastic disease; papillary thyroid cancer; translocation; molecular cytogenetics; breakpoint delineation; fluorescence in situ hybridization; bacterial artificial chromosomes
Abstract: …tumors and papillary thyroid carcinomas (PTCs…regions. Keywords: Chernobyl neoplastic disease papillary thyroid cancer translocation molecular…studies of post-Chernobyl cases of PTC…radiation-induced childhood thyroid cancer: S96T, as…
URL: http://www.mdpi.com/2073-4425/2/3/397/pdf-vor
Title: Polymorphisms in the p53 gene in thyroid tumours and blood samples of children from areas in Belarus
Author: Hillebrandt, S / Streffer, C / Demidchik, E.P / Biko, J / Reiners, Chr,
Reference: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 381 (2), p.201-207, Nov 1997
doi: 10.1016/S0027-5107(97)00169-3
Abstract: We present changes in the p53 gene in a group of 70 thyroid tumours and 40 blood samples obtained from children from Belarus. Three thyroid tumours show a polymorphism in exon 6 (codon 213) and 5 tumours show a polymorphism in intron 6, 37 bp upstream to the 5′-end of exon 7. Only one patient has a mutation in exon 7 (codon 258) resulting in an amino acid substitution in the protein p53. …One polymorphism in intron 6 was also found in the group of 30 healthy children from Belarus. The fact that the differences in the sequence in p53 found in the tumours was also seen in the blood of these patients demonstrates that they are polymorphisms not induced by radiation exposure. It is difficult to conclude, if the polymorphisms found by us could be associated with the predisposition to radiation-induced cancer.
URL: http://www.sciencedirect.com/science/article/pii/S0027510797001693
Title: Comet assay on children’s leukocytes 8 years after the Chernobyl disaster
Author: Frenzilli, G / Lori, A / Panasiuk, G / Ferdeghini, M / Barale, R
Reference: Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 415 (1-2), p.151-158, Jul 1998
doi: 10.1016/S1383-5718(98)00060-6
Keywords: Single cell gel electrophoresis; Human leukocyte; DNA damage; Bleomycin; Adaptive response
Abstract…. The children come from the Gomel region, one of the areas most heavily radio-contaminated by the Chernobyl fallout. In addition, leukocytes were treated with a challenge dose of bleomycin (BLM, 1.5 μg/ml), to assess the presence of an adaptive response (AR) potentially resulting from chronic exposure to radionuclides. As controls, 13 children living in Pisa (Italy) were enrolled in the study. Children with thyroid cancer show higher (p<0.001) DNA damage than healthy ones.. …
URL: http://www.sciencedirect.com/science/article/pii/S1383571898000606
Title: DNA damage evaluated by alkaline single cell gel electrophoresis (SCGE) in children of Chernobyl, 10 years after the disaster
Author: Frenzilli, G / Bosco, E / Antonelli, A / Panasiuk, G / Barale, R
Reference: Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 491 (1-2), p.139-149, Apr 2001
doi: 10.1016/S1383-5718(01)00136-X
Keywords: Single cell gel electrophoresis; Human leukocytes; DNA damage; Bleomycin; Clastogenic factors
Abstract: Using the alkaline single cell gel electrophoresis (Comet) assay, the extent of DNA damage was evaluated in leukocytes of 43 Belarussian children (16 healthy and 27 affected by thyroid cancer). Thirty-nine healthy children from Pisa (Italy) were enrolled in the study as controls. In addition to basal levels of DNA damage, leukocytes were treated in vitro with bleomycin (BLM), a radiomimetic drug, to evaluate a possible adaptive response in different groups of children….
URL: http://www.sciencedirect.com/science/article/pii/S138357180100136X
Title: The alkaline single-cell gel electrophoresis (SCGE) assay applied to the analysis of radiation-induced DNA damage in thyroid cancer patients treated with 131 I
Author: Gutiérrez, Sara / Carbonell, Elisabet / Galofré, Pere / Creus, Amadeu / Marcos, Ricardo
Reference: Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 413 (2), p.111-119, Mar 1998
doi: 10.1016/S1383-5718(98)00010-2
Keywords: Human blood cell; Comet assay; Thyroid cancer patient; 131I sodium iodide
Abstract: …nodular goiter or with thyroid carcinoma, subjected…a liquidator in the Chernobyl area immediately after…investigation of the Chernobyl worker indicated…accumulation in the thyroid, this gland would…same group of thyroid cancer patients by using the…
URL: http://www.sciencedirect.com/science/article/pii/S1383571898000102