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
7 resultados
Resultados de Busca
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- 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.
- 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.
- Y haplotype variability in a population of SAO Paulo state, Brazil(2016) CARDENA, M. M. S. G.; MANSUR, A. J.; PEREIRA, A. C.; FRIDMAN, C.
- SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes (vol 17, pg 261, 2015)(2016) LIMA, F. A.; GONCALVES, F. T.; FRIDMAN, C.
- The GHEP-EMPOP collaboration on mtDNA population data-A new resource for forensic casework(2011) PRIETO, L.; ZIMMERMANN, B.; GOIOS, A.; RODRIGUEZ-MONGE, A.; PANETO, G. G.; ALVES, C.; ALONSO, A.; FRIDMAN, C.; CARDOSO, S.; LIMA, G.; ANJOS, M. J.; WHITTLE, M. R.; MONTESINO, M.; CICARELLI, R. M. B.; ROCHA, A. M.; ALBARRAN, C.; PANCORBO, M. M. de; PINHEIRO, M. F.; CARVALHO, M.; SUMITA, D. R.; PARSON, W.Mitochondrial DNA (mtDNA) population data for forensic purposes are still scarce for some populations, which may limit the evaluation of forensic evidence especially when the rarity of a haplotype needs to be determined in a database search. In order to improve the collection of mtDNA lineages from the Iberian and South American subcontinents, we here report the results of a collaborative study involving nine laboratories from the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) and EMPOP. The individual laboratories contributed population data that were generated throughout the past 10 years, but in the majority of cases have not been made available to the scientific community. A total of 1019 haplotypes from Iberia (Basque Country, 2 general Spanish populations, 2 North and 1 Central Portugal populations), and Latin America (3 populations from Sao Paulo) were collected, reviewed and harmonized according to defined EMPOP criteria. The majority of data ambiguities that were found during the reviewing process (41 in total) were transcription errors confirming that the documentation process is still the most error-prone stage in reporting mtDNA population data, especially when performed manually. This GHEP-EMPOP collaboration has significantly improved the quality of the individual mtDNA datasets and adds mtDNA population data as valuable resource to the EMPOP database (www.empop.org).
- Haplotype diversity in mitochondrial DNA hypervariable region in a population of southeastern Brazil(2014) FRIDMAN, C.; GONZALEZ, R. S.; PEREIRA, A. C.; CARDENA, M. M. S. G.Brazilian population derives from Native Amerindians, Europeans, and Africans. Southeastern Brazil is the most populous region of the country. The present study intended to characterize the maternal genetic ancestry of 290 individuals from southeastern (Brazil) population. Thus, we made the sequencing of the three hypervariable regions (HV1, HV2, and HV3) of the mitochondrial DNA (mtDNA). The statistical analyses were made using Arlequin software, and the median-joining haplotype networks were generated using Network software. The analysis of three hypervariable regios showed 230 (79.3 %) unique haplotypes and the most common haplotype was ""263G"" carried by 12 (4.1 %) individuals. The strikingly high variability generated by intense gene flow is mirrored in a high sequence diversity (0.9966 +/- 0.0010), and the probability of two random individuals showing identical mtDNA haplotypes were 0.0068. The analysis of haplogroup distribution revealed that 36.9 % (n = 107) presented Amerindian haplogroups, 35.2 % (n = 102) presented African haplogroups, 27.6 % (n = 80) presented European haplogroups, and one (0.3 %) individual presented East Asian haplogroup, evidencing that the southeastern population is extremely heterogeneous and the coexistence of matrilineal lineages with three different phylogeographic origins. The genetic diversity found in the mtDNA control region in the southeastern Brazilian population reinforces the importance of increased national database in order to be important and informative in forensic cases.