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Genome instability biomarkers in children with non-syndromic orofacial clefts
Abstracts / Toxicology Letters 258S (2016) S62–S324
and Zn were quantified as 3687.9 g/g (range 786.3–11,240 g/g), 13.55 g/g (range 0.0–128 g/g), respectively. Most of the cosmetic products in this study were found to contain high concentration of Fe and Zn which showed a wide variation among the samples. The present study has only demonstrated that cosmetic products are notable sources of Fe and Zn in human body. Further study is required on the absorbed level and the number of persons exposed to it. Furthermore, there is a need for the establishment of regulations for this heavy metals in cosmetic products. However, it would be useful to repeat similar studies with specific intervals for the safe use of these products. http://dx.doi.org/10.1016/j.toxlet.2016.06.2024 P20-006 Effect of transferrin -576G/A and 3296G > A gene polymorphisms on blood iron and lead levels in beta-thalassemia major patients D. Kaya Akyüzlü 1 , Z. Kayaaltı 1,∗ , F. Özdemir 1 , B. Yüksel 2 , T. Söylemezo˘glu 1 1
Ankara University, Institute of Forensic Sciences, Ankara, Turkey Turkish National Police, Ankara Police Forensic Laboratory, Ankara, Turkey 2
Beta-thalassemia is caused by a deficiency of beta globin due to any of more than 200 point mutations in the beta globin gene, which results in a broad range of thalassaemia phenotypes including severe anemia and clinically asymptomatic individuals. It is suggested that this variability is not to be explained only by genotypic variability at known loci. The co-inheritance of other genetic variants mapping outside the globin clusters could influence the variability of the clinical phenotype of thalassemia. Thus, we aimed to find out whether blood iron and lead levels are modified by TF -576G > A and TF 3296G > A genotypes in 100 genetically unrelated beta-thalassemia major patients (mean age 28.44 ± 9.36 years; range 18–45 years). Blood lead levels were quantified using GFAAS and blood iron levels were measured with FAAS. The -576G/A and 3296G > A SNPs in the transferrin gene was genotyped using the PCR-RFLP method. Although it was not statistically significant (p > 0.05), blood iron and lead levels were higher in thalassemia patients with TF 3296AA genotype than those with GG or GA genotypes. Thalassemia patients with TF -576AA genotype had also higher blood iron levels, but lower lead levels, than those with GG or GA genotypes. These results indicated that TF -576G/A and 3296G > A SNPs were not associated with blood iron and lead levels in Turkish beta-thalassemia major patients. This study is supported by the Scientific and Technical Research Council of Turkey (TUBITAK) by the project number 114S312. http://dx.doi.org/10.1016/j.toxlet.2016.06.2025
S295
P20-007 Genome instability biomarkers in children with non-syndromic orofacial clefts V.S. Amaral 1,∗ , L.A. Xavier 3 , J.F. Bezerra 2 , A.A. Rezende 2 , R. Azevedo 3 , R.J. Dalmolin 3 1
Department of Cellular Biology and Genetics, Federal University of Rio Grande do Norte, Natal, Brazil 2 Department of Clinical and Toxicological Analysis, Federal University of Rio Grande do Norte, Natal, Brazil 3 Department of Biochemistry, Federal University of Rio Grande do Norte, Natal, Brazil
The non-syndromic clefts of lip and/or palate (NSCL/P) are among the most common birth defects in humans. It is still a challenge to characterize the contribution of genetic and environmental factors that can cause these clefts. Thus, the present work aimed to investigate more about these factors, specifically the genome instability by the cytokinesis-block micronucleus assay and polymorphisms by PCR-RFLP in genes related to folic acid and methionine metabolism. Our results indicate that basal formation of micronuclei, nucleoplasmic bridges and nuclear buds was increased in children with clefts when compared with control group (p < 0.001) and none of the evaluated polymorphisms significantly modified the biomarkers frequency. However, chronic folic acid deficiency was pointed as an important nutritional factor for this genome instability detected due to the presence of new nuclear morphologies (fused, circular and horseshoe) in the patients’ cells analyzed. Children with clefts had 2.3 times more risk to have high micronuclei frequency (p = 0.043) according to binary logistic regression. Moreover, new bioinformatics tools lead us to develop new hypothesis about NSCL/P etiology. Through the Transcriptogram analysis, genome instability was further investigated and could be associated with other biological processes in which gene clusters was expressed differentially to control subjects. The high genomic instability in children with oral clefts suggests that misrepaired double strand breaks in DNA that create micronuclei represent a significant factor in NSCL/P development. http://dx.doi.org/10.1016/j.toxlet.2016.06.2026 P20-008 Characterization of suicide population in autopsies performed in the Forensic Medical Service of Copiapó, 2007 to 2015 E.C. Araneda 1,∗ , C.M. Espinoza 1 , D.S. Arce 3 , I.M. Novakovic 2 , C.A. Silva 2 1
Unit of Laboratoty, Forensic Medical Service, Copiapó, Chile Unit of Thanatology, Forensic Medical Service, Copiapó, Chile 3 Departament of Biochemistry, Universidad Austral de Chile, Chile 2
Background: In the world occurs a death by suicide every 40 s, resulting in a rate of 16 per 100,000 populations according to OMS, the same source informed Chile has a rate which varies between 10 and 14.9 per 100,000 populations by 2012, with an increasing trend. Objective: characterize the suicidal population in expertises of autopsies realized in the Forensic Medical Service (SML) of Copi˜ apó, which it includes the province of Copiapó and Chanaral of Atacama region, in period 2007–2015. Material–method: The study is descriptive cross-sectional retrospective for death cases with etiology suicidal. Results: Of 1203 surveys studied autopsy, 218 correspond to death by suicide equivalent to an average rate of 11 per 100,000
and Zn were quantified as 3687.9 g/g (range 786.3–11,240 g/g), 13.55 g/g (range 0.0–128 g/g), respectively. Most of the cosmetic products in this study were found to contain high concentration of Fe and Zn which showed a wide variation among the samples. The present study has only demonstrated that cosmetic products are notable sources of Fe and Zn in human body. Further study is required on the absorbed level and the number of persons exposed to it. Furthermore, there is a need for the establishment of regulations for this heavy metals in cosmetic products. However, it would be useful to repeat similar studies with specific intervals for the safe use of these products. http://dx.doi.org/10.1016/j.toxlet.2016.06.2024 P20-006 Effect of transferrin -576G/A and 3296G > A gene polymorphisms on blood iron and lead levels in beta-thalassemia major patients D. Kaya Akyüzlü 1 , Z. Kayaaltı 1,∗ , F. Özdemir 1 , B. Yüksel 2 , T. Söylemezo˘glu 1 1
Ankara University, Institute of Forensic Sciences, Ankara, Turkey Turkish National Police, Ankara Police Forensic Laboratory, Ankara, Turkey 2
Beta-thalassemia is caused by a deficiency of beta globin due to any of more than 200 point mutations in the beta globin gene, which results in a broad range of thalassaemia phenotypes including severe anemia and clinically asymptomatic individuals. It is suggested that this variability is not to be explained only by genotypic variability at known loci. The co-inheritance of other genetic variants mapping outside the globin clusters could influence the variability of the clinical phenotype of thalassemia. Thus, we aimed to find out whether blood iron and lead levels are modified by TF -576G > A and TF 3296G > A genotypes in 100 genetically unrelated beta-thalassemia major patients (mean age 28.44 ± 9.36 years; range 18–45 years). Blood lead levels were quantified using GFAAS and blood iron levels were measured with FAAS. The -576G/A and 3296G > A SNPs in the transferrin gene was genotyped using the PCR-RFLP method. Although it was not statistically significant (p > 0.05), blood iron and lead levels were higher in thalassemia patients with TF 3296AA genotype than those with GG or GA genotypes. Thalassemia patients with TF -576AA genotype had also higher blood iron levels, but lower lead levels, than those with GG or GA genotypes. These results indicated that TF -576G/A and 3296G > A SNPs were not associated with blood iron and lead levels in Turkish beta-thalassemia major patients. This study is supported by the Scientific and Technical Research Council of Turkey (TUBITAK) by the project number 114S312. http://dx.doi.org/10.1016/j.toxlet.2016.06.2025
S295
P20-007 Genome instability biomarkers in children with non-syndromic orofacial clefts V.S. Amaral 1,∗ , L.A. Xavier 3 , J.F. Bezerra 2 , A.A. Rezende 2 , R. Azevedo 3 , R.J. Dalmolin 3 1
Department of Cellular Biology and Genetics, Federal University of Rio Grande do Norte, Natal, Brazil 2 Department of Clinical and Toxicological Analysis, Federal University of Rio Grande do Norte, Natal, Brazil 3 Department of Biochemistry, Federal University of Rio Grande do Norte, Natal, Brazil
The non-syndromic clefts of lip and/or palate (NSCL/P) are among the most common birth defects in humans. It is still a challenge to characterize the contribution of genetic and environmental factors that can cause these clefts. Thus, the present work aimed to investigate more about these factors, specifically the genome instability by the cytokinesis-block micronucleus assay and polymorphisms by PCR-RFLP in genes related to folic acid and methionine metabolism. Our results indicate that basal formation of micronuclei, nucleoplasmic bridges and nuclear buds was increased in children with clefts when compared with control group (p < 0.001) and none of the evaluated polymorphisms significantly modified the biomarkers frequency. However, chronic folic acid deficiency was pointed as an important nutritional factor for this genome instability detected due to the presence of new nuclear morphologies (fused, circular and horseshoe) in the patients’ cells analyzed. Children with clefts had 2.3 times more risk to have high micronuclei frequency (p = 0.043) according to binary logistic regression. Moreover, new bioinformatics tools lead us to develop new hypothesis about NSCL/P etiology. Through the Transcriptogram analysis, genome instability was further investigated and could be associated with other biological processes in which gene clusters was expressed differentially to control subjects. The high genomic instability in children with oral clefts suggests that misrepaired double strand breaks in DNA that create micronuclei represent a significant factor in NSCL/P development. http://dx.doi.org/10.1016/j.toxlet.2016.06.2026 P20-008 Characterization of suicide population in autopsies performed in the Forensic Medical Service of Copiapó, 2007 to 2015 E.C. Araneda 1,∗ , C.M. Espinoza 1 , D.S. Arce 3 , I.M. Novakovic 2 , C.A. Silva 2 1
Unit of Laboratoty, Forensic Medical Service, Copiapó, Chile Unit of Thanatology, Forensic Medical Service, Copiapó, Chile 3 Departament of Biochemistry, Universidad Austral de Chile, Chile 2
Background: In the world occurs a death by suicide every 40 s, resulting in a rate of 16 per 100,000 populations according to OMS, the same source informed Chile has a rate which varies between 10 and 14.9 per 100,000 populations by 2012, with an increasing trend. Objective: characterize the suicidal population in expertises of autopsies realized in the Forensic Medical Service (SML) of Copi˜ apó, which it includes the province of Copiapó and Chanaral of Atacama region, in period 2007–2015. Material–method: The study is descriptive cross-sectional retrospective for death cases with etiology suicidal. Results: Of 1203 surveys studied autopsy, 218 correspond to death by suicide equivalent to an average rate of 11 per 100,000