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Made available in DSpace on 2020-12-12T00:59:20Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-12-01 Initial data about the population of the Center-West Brazil region for mtDNA CR were published in 2019. From this group, 74 samples were selected from individuals who shared haplotypes. The purpose was to analyze the complete mtDNA by Massively Parallel Sequencing and to evaluate if it is possible to differentiate these haplotypes. Libraries were created for all samples and to date 22 samples were sequenced by the Illumina system. Analyzing only the CR, 8 haplotypes were identified in these 22 samples. The complete mtDNA analysis allowed the identification of 16 haplotypes, 6 of which were shared by two samples each, that is, the diversity of haplotypes in this sample increased. In addition, we identified some genetic variants not reported in the EMPOP in mtDNAs classified in haplogroups A2, B2, L2a1f and L0a2a2a. Laboratório de Investigação de Paternidade UNESP-FCFAr Polícia Federal Instituto Nacional de Criminalística Laboratório de Investigação de Paternidade UNESP-FCFAr

Made available in DSpace on 2018-12-11T17:34:04Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-10-03 Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Short tandem repeats (STRs) are genetic markers largely employed in forensic analysis and paternity investigation cases. When an inconsistency between the parent and child is considered as a possible mutation, the mutation rate should be incorporated into paternity index calculations to give a robust result and to reduce the chance of misinterpretation. The aim of this study was to estimate the mutation rates of 20 autosomal STRs loci used for paternity tests. In these loci we analysed 29,831 parent-child allelic transfers from 929 duo or trio paternity tests carried out during 2012?2016 from São Paulo State, Brazil. We identified 35 mutations in 16 loci, and they were more frequent in the paternal germline compared to the maternal germline. The loci with the highest rate were vWA and FGA and the ones with the lowest rate were PENTA E, PENTA D, D21S11, D7S820 and D6S1043. We did not identified any mutation in D2S1338, TH01, TPOX and D16S539 loci. All mutations consisted of losses or gains of one repeat unit. Mutation rates found in the São Paulo population have peculiarities, which justifies the use of regional databases in laboratories. Laboratory of Paternity Investigation São Paulo State University (UNESP) School of Pharmaceutical Sciences Laboratory of Paternity Investigation São Paulo State University (UNESP) School of Pharmaceutical Sciences

Y chromosome markers have been widely studied due to their various applications in the fields of forensic and evolutionary genetics. In this study, 35 Y-SNPs and 17 Y-STRs were genotyped in 253 males from the State of Espirito Santo, Brazil. A total of 18 haplogroups and 243 haplotypes were detected; the haplogroup and haplotype diversities were 0.7794 and 0.9997, respectively. Genetic distance analysis using the Y-STR data showed no statistically significant differences between Espirito Santo and other admixed populations from Brazil. The classification of paternal lineages based on haplogroups showed a predominant European contribution (85.88 %), followed by African (11.37 %) and Amerindian (2.75 %) contributions.

The Y-STRs have high mutation rates, being useful to discriminate unrelated males. They are widely used in paternity and forensic investigations to study the recent history and migration movements of populations. Recently, the YfilerPlus was released to increase discrimination inside populations, by adding 9 Y-STRs to the previous Yfiler version. The genetic composition of Brazil is known to vary through 5 geopolitical regions: South, Southeast, North, Northeast and Central-west. Therefore, for this study, samples from Maranhao, Espirito Santo, Sao Paulo and Rio Grande do Sul were characterized for the Y-STR markers present in YfilerPlus kit, to evaluate if diversity increases with the enlargement of the Yfiler set, and if significant differences exists among populations. Genetic differentiation analysis did not reveal statistically significant differences in the YfilerPlus haplotype composition of the studied samples. High diversities were observed in all samples for both Yfiler and YfilerPlus marker sets. Inside populations, 20 haplotypes were shared by two individuals for the Yfiler-STRs. This number decreases to 14 when using the 25 Y-STRs from the YfilerPlus. The YfilerPlus demonstrated an increased discrimination power in comparison to the Yfiler kit, being suitable for forensic applications in the studied Brazilian populations, for which data were not yet available.

Made available in DSpace on 2018-11-29T05:07:19Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-12-01 Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Sao Paulo state is one of the Brazilian states with the highest cultural and ethnic miscegenation, mainly of Italian and Portuguese descendants, but also strongly influenced by Amerindians, Africans, Spanish, Germans, Arabs and Japanese, as well as the high number of immigrants from the northeast region. In this work we analyzed statistical data of three STRs markers (D22S1045, D2S441 and D10S1248) that are used in our laboratory's forensic routine for paternity investigations. The use of these data will be extremely important for the laboratory to perform statistical analyzes for the conclusion of the reports. We analyzed 221 samples obtained from unrelated individuals born in the Sao Paulo state, which the allele frequencies and statistical parameters were estimated with PowerStats version 12 (Promega Corp.). The power of discrimination (PD) and power of exclusion (PE) for the D10S1248 marker were 0.914 and 0.576 respectively and the allele 14 showed the highest frequency (0.294) and 8, 10, 18 and 19 alleles presented the lowest frequency (0.002). PD and PE of the D2S441 marker were 0.907 and 0.551 respectively; the highest frequency allele was 11 (0.312) and the lowest frequency alleles were 9 and 12.3 (0.002). The marker D22S1045 showed PD 0.890 and PE 0.489 with a higher frequency allele 16 (0.373) and lowest frequency allele 8 (0.002). Also, significant differences were found between the Sao Paulo population and the other populations for the three markers analyzed. Sao Paulo State Univ, Lab Patern Invest, Araraquara, Brazil Sao Paulo State Univ, Lab Patern Invest, Araraquara, Brazil

The Southeast region of Brazil is the main economic region, the most populous and with the major cultural and genetic miscegenation of the country. Due to its historical context, it mainly includes descendants of Portuguese and Italians, but also has strong influence of Native americans, Africans, Spaniards and Germans. The influence of Arabs and Asians is very small. In this work, the ancestral proportions of the population of the Southeast region were evaluated through a genetic data compilation with diverse markers (Y-SNPs, AIM-INDELs, mtDNA and X-INDELs) in individuals from the states of Sao Paulo, Rio de Janeiro, Minas Gerais and Espirito Santo, which form this region. The proportion of paternal lineages (Y-SNPs) with European origin is much higher (86.57%), being 10.86% of African origin and 1.98% native American. Instead, the proportion of African origin (44.1%) predominates in the maternal lineages (mtDNA), followed by Native American with 29.2%, European with 26.2% and only 0.5% for Asian. With the autosomal AIM-INDELs the ancestral proportion obtained was 59.12% European, 28.12% African and 12.76% Native American. The autosomal chromosomes tend to reflect an average between the ancestry proportions of the Y chromosome and mtDNA. No Asian ancestry was identified with these markers. In preliminary analyzes with X-INDELs in samples from Sao Paulo, we found the following ancestral proportions: 29.4% African, 49.7% European and 20.9% Native American. This genetic miscegenation occurred since the formation of this region, when Portuguese colonizers mated with native women and later with slaves brought from Africa.

Mitochondrial DNA (mtDNA) analysis is usually a last resort in routine forensic DNA casework especially when nuclear DNA analysis cannot be applied. Because of the Brazilian population is highly admixed it is necessary to select highly discriminatory SNPs. The goal of this article is to characterize the mtDNA haplogroups in 100 unrelated individuals from the state of Espirito Santo, Brazil, by using 30-SNPs of mtDNA in two multiplex SNaPshot. The population was classified according to its origin in 43% of African, 26% of Native American, 30% of European and 1% Asian in 19 different haplogroups. These data confirmed therefore that this population is also highly admixed because of the history of country colonization.

Pereira et al. [3] reported a method for multiplex analysis of 38 INDELs autosomes known polymorphic in different populations of the world which can be used in the human identification, but this methodology not originally introduced marker for the analysis of amelogenin. In laboratory of paternity of UNESP/Araraquara, Brazil, kinship analysis are performed using samples with degraded DNA, where the amplification of 38HID-INDELs was efficient compared to STRs in these samples. For paternity tests also analyze STRs, and the verification of the sex of samples is done by the amelogenin marker analysis present in commercial kits, but the bad ampification of STRs may interfere in the correct reading of amelogenin in the electropherogram. Trying to solve this problem we decided to add the amelogenin marker in multiplex reaction with 38HID-INDELs.