FERNANDA DE TOLEDO GONCALVES
Projetos de Pesquisa
Unidades Organizacionais
LIM/40 - Laboratório de Imunohematologia e Hematologia Forense, Hospital das Clínicas, Faculdade de Medicina
8 resultados
Resultados de Busca
Agora exibindo 1 - 8 de 8
- 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.- 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
- Is it possible to use Forensic DNA phenotyping in Brazilian population?(2015) FRIDMAN, Cintia; CARDENA, Mari Maki Siria Godoy; LIMA, Felicia de Araujo; GONCALVES, Fernanda de ToledoThe prediction of human traits in order to help forensic investigations has been one of the most interesting researches in the last decade. Some pigmentation genes such as SLC45A2 variants have been associated with phenotypic diversity of skin, eyes and hair color in homogeneous populations. The aim of this study was evaluate the possibility of association between three SLC45A2 polymorphisms (rs26722, rs16891982 and 2,278,007) with skin, eye and hair color in a sample of 598 individuals of admixed population from Brazil, intending to use it in forensic genetic situations. DNA sequencing was performed with BigDye Terminator v3.1 and capillary electrophoresis was performed in ABI3130. Presence of rs16891982 variant (C>G) was associated with non-black skin (OR 16.35; CI 6.014-44.5), as well as with non-black hair (OR 18.12. CI 5.25-62.6) and light eyes (OR 5.04; CI 2.6-9.6). Polymorphism rs2278007 in heterozygous (AG) was associated with a lower probability of individual presenting lighter pigmentation of skin and hair. Our data corroborates the findings of other studies in homogeneous populations, suggesting that the analysis of SLC45A2 polymorphisms can be used as a tool to access some phenotypic traits and use to help forensic identifications as molecular predictor of phenotypes also in admixed populations. These results supplement the previous ones we showed in the same population with the genes SLC24A5 and ASIP, and they are part of major project, which aims to study the correlation of several pigmentation genes and skin, hair and eye color in Brazilian population.
- The E180splice Mutation in the GHR Gene Causing Laron Syndrome: Witness of a Sephardic Jewish Exodus from the Iberian Peninsula to the New World?(2014) GONCALVES, Fernanda T.; FRIDMAN, Cintia; PINTO, Emilia M.; GUEVARA-AGUIRRE, Jaime; SHEVAH, Orit; ROSEMBLOOM, Arlan L.; HWA, Vivian; CASSORLA, Fernando; ROSENFELD, Ron G.; LINS, Theresa S. S.; DAMIANI, Durval; ARNHOLD, Ivo J. P.; LARON, Zvi; JORGE, Alexander A. L.Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gene. The most frequent GHR mutation is E180splice (rs121909360), which was initially found in an inbred population of Spanish descent in Ecuador and subsequently in Israel, Brazil, Chile, and the United States. The aim of the present study is to determine if the E180splice mutation arose from a common origin. We studied 22 patients with LS from Ecuador, Israel (of Moroccan origin), Brazil, Chile, and the United States (of Mexican origin) who were homozygous for the E180splice mutation and compared them to control individuals for markers surrounding the GHR, intragenic polymorphisms, and Y-chromosome STR. An identical haplotype was found in all but one of the subjects carrying the E180splice mutation: D5S665: 150/150; D5S2082: 192/192; D5S2087: 246/246; rs6179 G/G; and rs6180 C/C. One patient differed from the others only at D5S2082 (168/192). This haplotype is rare (approximate to 1%) in control individuals and confirmed that the E180splice-associated haplotype was not derived from independent origins but represented recombination from a common ancestor. The analysis of paternal lineage markers showed that 50% belong to haplogroup R1b (found in Portugal and Spain) and 40% to haplogroups J and E (typical in the Middle East and in Eastern European Jews). The germline E180Splice mutation appears to have originated from a single common ancestor. The presence of Y-chromosome markers associated with Sephardic populations in persons harboring the E180splice mutation provides genetic evidence in support of the historical tracking of the exodus of this specific population. (c) 2014 Wiley Periodicals, Inc.
- 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.
- Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect(2017) SCALCO, Renata C.; GONCALVES, Fernanda T.; SANTOS, Hadassa C.; CARDENA, Mari M. S. G.; TONELLI, Carlos A.; FUNARI, Mariana F. A.; ARACAVA, Rosana M.; PEREIRA, Alexandre C.; FRIDMAN, Cintia; JORGE, Alexander A. L.Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples from 1,205 local inhabitants, 48 relatives of the homozygous patients and four individuals of another affected family. Genotyping forSTAT5B c.424_427del mutation and for two polymorphic markers around it was done through fragment analysis technique. We also determined Y-chromosome and mtDNA haplotypes and genomic ancestry in heterozygous carriers. We identified seven families with STAT5B c.424_427del mutation, with 33 heterozygous individuals. The minor allelic frequency of this mutation was 0.29% in this population (confidence interval 95% 0.08-0.5%), which is significantly higher than the frequency of other pathogenic STAT5B allele variants observed in public databases (p < 0.001). All heterozygous carriers had the same haplotype present in the homozygous patients, found in only 9.4% of non-carriers (p < 0.001), supporting the existence of a founder effect. The Y-chromosome haplotype, mtDNA and genomic ancestry analysis indicated a European origin of this mutation. Our results provide compelling evidence for a founder effect of STAT5B c.424_427del mutation.
- 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.