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
20 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 20
- 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.
- 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.
- 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.
- Polymorphisms of mitochondrial DNA control region are associated to endometriosis(2018) ANDRES, Marina Paula; CARDENA, Mari Maki Siria Godoy; FRIDMAN, Cintia; PODGAEC, SergioPurpose Polymorphisms in the control region of mitochondrial DNA (mtDNA) can affect generation of reactive oxygen species and impact in the pathogenesis of endometriosis. This study investigated the association of mtDNA polymorphisms with endometriosis. Methods Patients were divided in two groups: endometriosis (n = 90) and control (n = 92). Inclusion criteria were as follows: women between 18 and 50 years, with histological diagnosis and surgical staging of endometriosis (endometriosis group) or undergoing gynecological surgery for tubal ligation, leiomyoma, or ovarian cysts, with no evidence of endometriosis (control group). DNA extraction was performed from peripheral blood. Sanger sequencing of mtDNA control region was performed, and polymorphisms were determined comparing the sequences obtained with the Cambridge Reference Sequence. Results The frequency of polymorphisms T16217C (14.4 and 5.4% of endometriosis and control group, respectively; p = 0.049) and G499A (13.3 vs. 4.3%; p = 0.038) was higher in the endometriosis group, while T146C (32.6 vs. 18.9%; p = 0.042) and 573.2C (5.6 vs. 29.3%; p < 0.001) were lower. No difference was observed in haplogroups between groups. Conclusion mtDNA polymorphisms T16217C and G499A were associated with endometriosis, while T416C and 573.2C were shown to be associated with an absence of disease.
- CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women(2017) FRANCISCO, Daniela de Oliveira; ANDRES, Marina de Paula; GUEUVOGHLANIAN-SILVA, Barbara Yasmim; PODGAEC, Sergio; FRIDMAN, CintiaBased on the assumption that genetic factors are involved in the etiology of endometriosis, this study aimed to investigate the possibility of rs498679 (TLR4 gene), rs1799964 (TNF-alpha gene), rs3024496 (IL-10 gene), and rs2294021 (CCDC22 gene) polymorphisms being associated with the occurrence of this disease in a sample of Brazilian women. We conducted a case-control study with 100 women with histological confirmation of endometriosis (endometriosis group) and 100 women submitted to laparoscopy for benign disorders, in which the absence of endometriosis was confirmed (control group). All samples were genotyped by real-time PCR technique for rs498679, rs1799964, rs3024496, and rs2294021 polymorphisms. No significant difference was observed in genotypic or allelic frequencies between control and endometriosis groups for rs498679 (TLR4 gene), rs1799964 (TNF-alpha gene), rs3024496 (IL-10 gene), neither when comparing endometriosis subgroups (I-II versus III-IV). On the other hand, significant difference between stages I-II and III-IV of the disease was found in genotypic and allelic frequencies for the rs2294021 (CCDC22 gene) SNP (p = 0.048 and p = 0.017, respectively). Our results suggest that the rs2294021 (CCDC22 gene) polymorphism could be associated with increased susceptibility to endometriosis in Brazilian women when the allele C is present. In order to clarify this result, further studies should be conducted on a larger population.
- Assessment of the Relationship between Self-Declared Ethnicity, Mitochondrial Haplogroups and Genomic Ancestry in Brazilian Individuals(2013) CARDENA, Mari M. S. G.; RIBEIRO-DOS-SANTOS, Andrea; SANTOS, Sidney; MANSUR, Alfredo J.; PEREIRA, Alexandre C.; FRIDMAN, CintiaIn populations that have a high degree of admixture, such as in Brazil, the sole use of ethnicity self-declaration information is not a good method for classifying individuals regarding their ethnicity. Here, we evaluate the relationship of self-declared ethnicities with genomic ancestry and mitochondrial haplogroups in 492 individuals from southeastern Brazil. Mitochondrial haplogroups were obtained by analyzing the hypervariable regions of the mitochondrial DNA (mtDNA), and the genomic ancestry was obtained using 48 autosomal insertion-deletion ancestry informative markers (AIM). Of the 492 individuals, 74.6% self-declared as White, 13.8% as Brown and 10.4% as Black. Classification of the mtDNA haplogroups showed that 46.3% had African mtDNA, and the genomic ancestry analysis showed that the main contribution was European (57.4%). When we looked at the distribution of mtDNA and genomic ancestry according to the self-declared ethnicities from 367 individuals who self-declared as White, 37.6% showed African mtDNA, and they had a high contribution of European genomic ancestry (63.3%) but also a significant contribution of African ancestry (22.2%). Of the 68 individuals who self-declared as Brown, 25% showed Amerindian mtDNA and similar contribution of European and African genomic ancestries. Of the 51 subjects who self-declared as black, 80.4% had African mtDNA, and the main contribution of genomic ancestry was African (55.6%), but they also had a significant proportion of European ancestry (32.1%). The Brazilian population had a uniform degree of Amerindian genomic ancestry, and it was only with the use of genetic markers (autosomal or mitochondrial) that we were able to capture Amerindian ancestry information. Additionally, it was possible to observe a high degree of heterogeneity in the ancestry for both types of genetic markers, which shows the high genetic admixture that is present in the Brazilian population. We suggest that in epidemiological studies, the use of these methods could provide complementary information.