FERNANDA DE TOLEDO GONCALVES
Projetos de Pesquisa
Unidades Organizacionais
LIM/40 - Laboratório de Imunohematologia e Hematologia Forense, Hospital das Clínicas, Faculdade de Medicina
6 resultados
Resultados de Busca
Agora exibindo 1 - 6 de 6
- 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).
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.- Lung function, blood markers and genetic polymorphisms differences, between subjects exposed and not to silica(2019) LOMBARDI, Elisa; GONCALVES, Fernanda; FIRIGATO, Isabela; TERRA-FILHO, Mario; PRADO, Gustavo; SANTOS, Ubiratan
- Polymorphisms of CHRNA3 and CHRNA5: Head and neck cancer and cigarette consumption intensity in a Brazilian population(2019) SILVA, Mariana R.; GATTAS, Gilka J. F.; ANTONIO, Juliana De; FIRIGATO, Isabela; CURIONI, Otavio A.; GONCALVES, Fernanda de ToledoBackground: Cigarette consumption has been identified as the main non-etiological factor in head and neck cancer (HNC) development. One of the main compounds in cigarettes is nicotine, which binds directly to nicotine acetylcholine receptors (nAchRs) in the body, which are encoded by different genes of the CHRNA family. Polymorphisms in some of these genes have been studied in relation to the risk of HNC and cigarette consumption intensity. The aim of this study was to evaluate whether there were associations between the CHRNA3 (rs578776) and CHRNA5 (rs16969968) polymorphisms and HNC risk and between the polymorphisms and the intensity of cigarette consumption. Methods: A total of 1,067 individuals from Heliopolis Hospital in Sao Paulo were investigated, including 619 patients with HNC and 448 patients without diagnosed tumors. All participants answered a questionnaire about sociodemographic information and cigarette consumption data. The polymorphisms were determined by TaqMan genotyping by real-time PCR. Results: The polymorphisms studied, rs578776 (CHRNA3) and rs16969968 (CHRNA5), did not have an association with HNC risk, but the rs16969968 homozygous genotype was associated with increased cigarette consumption intensity (OR 1.93, 95% CI 1.05-3.58). Conclusion: The polymorphism CHRNA5 can be considered an indirect risk factor for neoplasms in these Brazilian samples when cigarette consumption increased.
- How many copies of GSTM1 and GSTT1 are associated with head and neck cancer risk?(2019) FIRIGATO, Isabela; GONCALVES, Fernanda de Toledo; ANTONIO, Juliana De; CURIONI, Otavio Alberto; SILVA, Mariana Rocha; GATTAS, Gilka Jorge FigaroPurpose: GSTM1 and GSTT1 present a polymorphism that can drive complete gene deletions. The current methodology can powerfully determine GSTM1 and GSTT1 copy number variations (CNVs), which may clarify the real contribution of each gene copies to the cellular detoxification process and tumour risk. However, only analysing the presence/absence of these genes yielded controversial results for several disorders, including cancer. Because head and neck cancer (HNC) is becoming a serious global health problem, this study determined the CNVs of GSTM1 and GSTT1 in an HNC case-control population and investigated the possible association between gene copy numbers and tumour risk. Methods: CNV was evaluated by (Ct) 2(-Delta Delta Ct) qPCR methodology in 619 HNC patients and 448 patients with no tumour diagnosis. Results: The genes copy number range was 0-3. The CNV of GSTM1 and GSTT1 frequencies were similar between the cases and control. Thus, none copy of GSTM1 and GSTT1 were associated with HNC risk. Notwithstanding, one copy of both genes had higher frequencies among individuals who carried GSTM1 and GSTT1. Conclusions: One copy number of GSTM1 and GSTT1 presented a higher frequency among carrier genes, but the CNV of GSTM1 and GSTT1 was not associated with HNC risk.
- Evaluation of HIrisplex-S system markers for eye, skin and hair color prediction in an admixed Brazilian population(2019) MARANO, Leonardo A.; ANDERSEN, Jeppe D.; GONCALVES, Fernanda T.; GARCIA, Ana Laura O.; FRIDMAN, CintiaThe inference of externally visible characteristics (i.e. skin, eye and hair color, height and facial features) from biological trace samples is known as Forensic DNA Phenotyping. The HIrisPlex-S system is a forensically validated tool for simultaneous eye, hair, and skin color prediction from DNA and has been reported to reach predictive power for skin colors, but investigations have mainly been carried out in homogeneous populations with minor admixture features. In this study, we present the first evaluation of the HIrisPlex-S system in an admixed population. A total of 611 Brazilian individuals were genotyped for 39 out of the 41 HIrisPlex-S markers, distributed in 19 genes/gene regions (MC1R, TUBB3, SLC45A2, KITLG, LOC105374875, IRF4, TYR, OCA2, SLC24A4, HERC2, PIGU, LOC105370627, TYRP1, ANKRD11, BNC2, SLC24A5, ASIP, RALY and DEF8). The remaining 2 markers are being typed and will be added to the final analysis. The predictions of eye, hair, and skin color were carried out using the HIrisPlex-S prediction model. The results were compared to the phenotypes for each individual, and the Area Under the Curve (AUC) for each phenotype feature was calculated using R statistics software. AUC values were found to be higher for blue eye (0.88), brown eye (0.67), black hair (0.69), fair skin (0.70) and dark skin (0.70). Intermediate phenotypes reached lower values compared to those of the extreme phenotypes (light/dark). Our results demonstrate that the HIrisPlex-S system markers have great potential for use in admixed populations, including the Brazilian, but our results also demonstrate that the intermediate color groups are difficult to predict.