Browsing by Author "Porto, M.J."
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- QUANTIFILER®TRIO DNA method performance in a collection of ancient samplesPublication . Vieira- Silva, C.; Lopes, J.; Afonso Costa, H.; Ribeiro, T.; Porto, M.J.; Dias, M; Cunha, E; Amorim, A,During the past few years significant progress has been made in solving technical challenges associated with STR profiling including the ability to analyze degraded DNA and low amounts of DNA. The result of these changes is that useful STR profiles can now be obtained from previously untypeable forensic DNA samples. Analysis of DNA from ancient material represents an important role in molecular anthropology, although there are many limitations concerning low DNA quantity and/or degraded DNA, and/or PCR inhibitors. These factors can make it difficult to decide whether to continue with STR analysis, which STR panel to use and how much DNA to add to PCR reaction. With all these constraints, DNA quantification represents an important tool to decide which method will follow in order to improve workflow and have good results in less time-consuming. The Quantifiler® Trio DNA method provides a quality index (QI) to detect the presence of degraded DNA along with PCR inhibitors.This guide allows the selection of the optimal short tandem repeat (STR) analysis chemistry (autosomal, or miniSTR) and streamlines the workflow while increasing downstream analysis success rates. In order to compare DNA quality from different extraction methods, samples from 46 exhumed Middle Ages individuals were extracted with modified phenol-chloroform method and also PrepFiler Express BTA™ method. DNA was quantified with Quantifiler® Trio DNA Quantification in an Applied Biosystems® 7500 Real-Time PCR System. Results were analyzed and allow us to point Quantifiler® Trio method as an important tool in pre-STR typing methods in ancient samples
- X-chromosomal STRs: Metapopulations and mutation ratesPublication . Gusmão, L.; Antão-Sousa, S.; Faustino, M.; Abovich, M.A.; Aguirre, D.; Alghafri, R.; Alves, C.; Amorim, A.; Arévalo, C.; Baldassarri, L.; Barletta-Carrillo, C.; Berardi, G.; Bobillo, C.; Borjas, L.; Braganholi, D.F.; Brehm, A.; Builes, J.J.; Cainé, Laura; Carvalho, E.F.; Carvalho, Mónica; Catelli, L.; Cicarelli, R.M.B.; Contreras, A.; Corach, D.; Di Marco, F.G.; Diederiche, M.V.; Domingues, P.; Espinoza, M.; Fernandéz, J.M.; García, M.G.; García, O.; Gaviria, A.; Gomes, I.; Grattapaglia, D.; Henao, J.; Hernandez, A.; Ibarra, A.A.; Lima, G.; Manterola, I.M.; Marrero, C.; Martins, J.A.; Mendoza, L.; Mosquera, A.; Nascimento, E.C.; Onofri, V.; Pancorbo, M.M.; Pestano, J.J.; Plaza, G.; Porto, M.J.; Posada, Y.C.; Rebelo, M.L.; Riego, E.; Rodenbusch, R.; Rodríguez, A.; Rodríguez, A.; Sanchez-Diz, P.; Santos, S.; Simão, F.; Siza Fuentes, L.M.; Sumita, D.; Tomas, C.; Toscanini, U.; Trindade-Filho, A.; Turchi, C.; Vullo, C.; Yurrebaso, I.; Pereira, V.; Pinto, N.The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10−4 (DXS7133) and 1.07x10−2 (DXS10135), being 5.2 times higher in the male (4.16 ×10−3) than in the female (8.01 ×10−4) germline.