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
3 resultados
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- 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.- 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.