CINTIA FRIDMAN RAVE
Projetos de Pesquisa
Unidades Organizacionais
Departamento de MedicinaLegal, Ética Médica e Medicina Social e do Trabalho, Faculdade de Medicina - Docente
LIM/40 - Laboratório de Imunohematologia e Hematologia Forense, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/40 - Laboratório de Imunohematologia e Hematologia Forense, Hospital das Clínicas, Faculdade de Medicina - Líder
28 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 28
- Efficiency of Casework Direct Kit for extraction of touch DNA samples obtained from cars steering wheels(2019) FRIDMAN, Cintia; GONCALVES, Fernanda T.; FRANCISCO, Daniela O.Analysis of STR profiles obtained from touch DNA has been very useful to the elucidation of crimes. Extraction method may be determinant for the recovery of genetic material collected from different surfaces. Vehicle theft is one of the most common crimes in Sao Paulo city, Brazil, but collection of biological traces in car steering wheels is not considered, because of the belief that profiles generated won't be able to identify the thief, only the owner. This study aimed to analyze the efficacy of extraction methods for obtaining DNA profiles in samples collected from steering wheels. Eight criminal acts were simulated with 2 different individuals each (mixture of victim and thief), in duplicate, in order to compare two extraction methods: DNA IQ (TM) and Casework Direct Kit (both Promega Corporation). Genetic material was collected by double swab method and quantified by Quantifiler (TM) Trio (ThermoFisher Scientific). Amplification was conducted with PowerPlex (R) Fusion System (Promega). It was possible to obtain STR profiles for all experiments. The mixtures were compared with reference profiles to evaluated how many alleles of each donor were observed. Samples extracted with Casework Direct Kit obtained STR profiles with higher averages of alleles for primary and secondary donors (88.7% and 59.9%, respectively) than those extracted with DNA IQ (TM) (60.4% and 38.1%, respectively). This could be explained by the differences established in the protocols of both methods, since DNA IQ (TM) is based on successive washes and can result in loss of DNA, whereas Casework Direct Kit minimizes this problem. We concluded that Casework Direct Kit was more efficient for processing touch DNA samples than DNA IQ (TM).
- SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes(2015) LIMA, Felicia de Araujo; GONCALVES, Fernanda de Toledo; FRIDMAN, CintiaPigmentation is a variable and complex trait in humans and it is determined by the interaction of environmental factors, age, disease, hormones, exposure to ultraviolet radiation and genetic factors, including pigmentation genes. Many polymorphisms of these genes have been associated with phenotypic diversity of skin, eyes and hair color in homogeneous populations. Phenotype prediction from biological samples using genetic information has benefited forensic area in some countries, leading some criminal investigations. Herein, we evaluated the association between polymorphisms in the genes SLC24A5 (rs1426654) and ASIP (rs6058017) with skin, eyes and hair colors, in 483 healthy individuals from Brazilian population for attainable use in forensic practice. The volunteers answered a questionnaire where they self-reported their skin, eye and hair colors. The polymorphic homozygous genotype of rs1426654(*)A and rs6058017(*)A in SLC24A5 and ASIP respectively, showed strongest association with fairer skin (OR 47.8; CI 14.1-161.6 and OR 8.6; CI 2.5-29.8); SLC24A5 alone showed associations with blue eyes (OR 20.7; CI 1.2-346.3) and blond hair (OR 26.6; CI 1.5-460.9). Our data showed that polymorphic genotypes (AA), in both genes, are correlated with characteristics of light pigmentation, while the ancestral genotype (GG) is related to darker traits, corroborating with previous studies in European and African populations. These associations show that specific molecular information of an individual may be useful to access some phenotypic features in an attempt to help forensic investigations, not only on crime scene samples but also in cases of face reconstructions in unknown bodies.
- Polymorphisms of ICAM-1 and IL-6 genes related to endometriosis in a sample of Brazilian women(2016) BESSA, Nathalie Zamagni; FRANCISCO, Daniela de Oliveira; ANDRES, Marina de Paula; GUEUVOGHLANIAN-SILVA, Barbara Yasmim; PODGAEC, Sergio; FRIDMAN, CintiaThis study investigated the possibility of K469E (rs5498) and G241R (rs1799969) polymorphisms, in ICAM-1 gene, and G634C (rs1800796), in IL-6 gene, being associated with the occurrence of endometriosis in a sample of Brazilian women. We genotyped 200 women (100 in control group and 100 in endometriosis group) by PCR-RFLP technique for G634C, K469E, and G241R polymorphisms. No significant difference was observed in genotypic frequency between control and endometriosis groups for G634C and K469E polymorphisms (p = 0.61 and p = 0.22, respectively). In addition, no significant difference between stages I-II and III-IV of the disease was found for both SNPs (p = 0.63 and p = 0.24, respectively). All individuals were wild homozygotes for G241R polymorphism. This study suggests that polymorphisms K469E, G241R, and G634C are not associated with increased susceptibility to endometriosis in Brazilian women.
conferenceObject Molecular autopsy reveals clues for genetic basis of congenital valve defect(2019) MADIA, F. A. R.; DIAS, A. T.; ZANARDO, E. A.; DAMASCENO, J. G.; NASCIMENTO, A. M.; COSTA, T. V. M. M.; CHEHIMI, S. N.; NOVO-FILHO, G. M.; MONTENEGRO, M. M.; OLIVEIRA, Y. G.; FREITAS, A. B.; VIEIRA, L. L.; SCHULTZ, R.; GONCALVES, F. T.; FRIDMAN, C.; KIM, C. A.; KULIKOWSKI, L. D.- Mitochondrial and genomic ancestry are associated with etiology of heart failure in Brazilian patients(2016) CARDENA, M. M. S. G.; RIBEIRO-DOS-SANTOS, A. K.; SANTOS, S. E. B.; MANSUR, A. J.; BERNARDEZ-PEREIRA, S.; SANTOS, P. C. J. L.; PEREIRA, A. C.; FRIDMAN, C.There is a high prevalence of heart failure (HF) in the general population, but it is more common in black people. We evaluated the association between genomic ancestry and mitochondrial haplogroups (mt-haplogroups) with HF etiology in 503 Brazilian patients. We elicited Mt-haplogroups by analyzing the control region of mitochondrial DNA, and genomic ancestry, by using 48 autosomal insertiondeletion ancestry informative markers. Hypertensive (28.6%, n = 144) and ischemic (28.4%, n = 143) etiologies of HF were the most prevalent herein. Our results showed that 233 individuals (46.3%) presented African mitochondrial (mt)-haplogroups, and the major contribution in the genomic ancestry analysis was the European ancestry (57.5% (+/- 22.1%)). African mt-haplogroups were positively associated with a diagnosis of hypertensive cardiomyopathy (odds ratio, OR 1.55, confidence interval, CI 95% 1.04-2.44, P = 0.04) when compared with European mt-haplogroups. Regarding the genomic ancestry, the African ancestry variant had higher risks (OR 7.84, 95% CI 2.81-21.91, P < 0.001), whereas the European ancestry variant had lower risks (OR 0.14, 95% CI 0.04-5.00, P < 0.001) for developing the hypertensive etiology. In addition, European ancestry showed an OR of 4.05 (CI 95% 1.53-10.74, P = 0.005), whereas African ancestry showed an OR of 0.17 (CI 95% 0.06-0.48, P = 0.001) for developing ischemic etiology. In conclusion, this study supports the importance of using ancestry informative markers and mitochondrial DNA to study the genetics of complex diseases in admixed populations to improve the management, treatment and prevention of these illnesses. Therefore, the ancestry informative markers and mt-haplogroups could provide new biomarkers to be associated with HF etiologies and be used as a premise for more specific management.
- Casework direct kit as an alternative extraction method to enhance touch DNA samples analysis(2020) FRANCISCO, Daniela de Oliveira; LOPEZ, Luis Fernandez; GONCALVES, Fernanda de Toledo; FRIDMAN, Cintia
- Male lineages in Brazilian populations and performance of haplogroup prediction tools(2020) JANNUZZI, Juliana; RIBEIRO, Julyana; ALHO, Clarice; ARAO, Grasielly de Oliveira Lazaro e; CICARELLI, Regina; CORREA, Heitor Simoes Dutra; FERREIRA, Suelen; FRIDMAN, Cintia; GOMES, Veronica; LOIOLA, Silvia; MOTA, Mariana Flavia da; RIBEIRO-DOS-SANTOS, Andrea; SOUZA, Carlos Antonio de; AZULAY, Rossana Santiago de Sousa; CARVALHO, Elizeu F.; GUSMAO, LeonorThe use of Y-chromosomal genetic markers in forensic investigations demands the establishment of reliable and representative DNA databases of different reference populations. The genetic characterization of the Y chromosome variation in human populations requires the analyses of haplotype frequencies allied to haplogroup determination. The present study aimed to contribute to the Brazilian database by providing 1,382 Yfiler Plus individual profiles, from 11 Brazilian states. The Yfiler Plus markers showed high haplotype diversities in all Brazilian populations (> 0.9970), allowing high infra-population discrimination in forensic investigations. Pairwise genetic distances showed a homogeneity between Brazilian populations (F-ST <= 0.0043; non-differentiation p-values >= 0.0212), indicating that admixed populations from Brazil can be represented in a single Yfiler Plus haplotype database, for forensic purposes. The performance of Haplogroup Predictor and NevGen software in haplogroup prediction based on Yfiler Plus and Yfiler haplotypes was evaluated in a subset of 416 Brazilian samples that were also genotyped for 51 Y-SNPs. In 25% of the samples, no classification or errors were found for at least one of the prediction tools or marker sets. NevGen presented lower error rates (5.52% and 8.65% with Yfiler Plus and Yfiler, respectively) than Haplogroup Predictor (16.11% with Yfiler Plus and 13.70% with Yfiler). In conclusion, both haplogroup prediction tools can be useful to direct the SNP typing, but present large error rates to be used in forensic analysis, especially in predicting African haplogroups in admixed South American populations.
conferenceObject Genomic variation associated with mortality in European ancestry among individuals with heart failure in Brazilian population(2018) CARDENA, M. M. S. G.; SANTOS, H. C.; HORIMOTO, A. R.; MANSUR, A. J.; PEREIRA, A. C.; GOUVEIA, M. H.; LEAL, T. P.; SCLIAR, M. O.; TARAZONA, E. M.; FRIDMAN, C.- Amerindian genetic ancestry is associated with higher survival rates compared to African and European ancestry in Brazilian patients with heart failure(2014) CARDENA, Mari M. S. G.; RIBEIRO-DOS-SANTOS, Andrea; SANTOS, Sidney; MANSUR, Alfredo J.; PEREIRA, Alexandre C.; FRIDMAN, Cintia
- Analysis of isoalleles and flanking SNPs of STR markers by NGS to distinguish monozygotic twins(2022) FONSECA, Renata I. B.; FRIDMAN, CintiaDNA analysis for forensic investigations is based on the concept that everyone is genetically unique, except in cases of monozygotic (MZ) twins. The most used markers are STRs, analyzed by CE, but they don't allow the differentiation of MZ twins. Human identification using NGS is already part of some forensic laboratories and it enables reading the STRs' sequence and its isoalleles, but there is no reference to this application for differen-tiation of MZ twins. Herein, we evaluated the possibility to distinguish MZ using the Precision ID GlobalFilerTM NGS STR Panel v2. The CE and NGS profiles were compared for 16 pairs of MZ, and the allele results were concordant, except for one pair, which showed an allele dropout on Penta D, probably because of its low coverage. We observed isoalleles in both individuals of 3 pairs, each in a different marker: D2S441, D12S391, and D4S2408, respectively, which did not allow the differentiation within each pair. However, we observed 2 flanking SNPs, each one in a pair, in only one individual of the pair: rs560609904 in TPOX (G016A) and rs569521603 in D6S1043 (G027B), highlighting the possibility of differentiating MZ twins.
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