46 documents found, page 1 of 5
Microsatellites’ mutation modeling through the analysis of the Y-chromosomal tr...
Antão-Sousa, Sofia; Gusmão, Leonor; Modesti, Nidia M.; Feliziani, Sofía; Faustino, Marisa; Marcucci, Valeria; Sarapura, Claudia; Ribeiro, JulyanaThe Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) organized a collaborative study on mutations of Y-chromosomal short tandem repeats (Y-STRs). New data from 2225 father-son duos and data from 44 previously published reports, corresponding to 25,729 duos, were collected and analyzed. Marker-specific mutation rates were estimated for 33 Y-STRs. Althou...
Mutational data and population profiling of 23 Y-STRs in three Brazilian popula...
Ambrosio, Isabela Brunelli [UNESP]; Braganholi, Danilo Faustino [UNESP]; Orlando, Larissa Barros Muniz; Andrekenas, Natalia Carolina [UNESP]Made available in DSpace on 2020-12-12T02:46:10Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-09-01; Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ); Y-chromosomal STRs are important markers in forensic genetics, due to some peculiar characteristics. The absence of recombination makes them a useful tool to infer kinship in complex cases involving distant paternal relatives, or to inf...
Paternal and maternal mutations in X-STRs: A GHEP-ISFG collaborative study
Pinto, Nádia; Pereira, Vânia; Tomas, Carmen; Loiola, Silvia; Carvalho, Elizeu F.; Modesti, Nidia; Maxzud, Mariana; Marcucci, Valeria; Cano, HortensiaMade available in DSpace on 2020-12-12T01:14:43Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-05-01; The GHEP-ISFG organized a collaborative study to estimate mutation rates for the markers included in the Investigator Argus X-12 QS kit Qiagen. A total of 16 laboratories gathered data from 1,612 father/mother/daughter trios, which were used to estimate both maternal and paternal mutation rates, when po...
Male lineages in Brazilian populations and performance of haplogroup prediction...
Jannuzzi, Juliana; Ribeiro, Julyana; Alho, Clarice; de Oliveira Lázaro e Arão, Grasielly; Cicarelli, Regina [UNESP]; Simões Dutra Corrêa, HeitorMade available in DSpace on 2020-12-12T00:58:33Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-01-01; Anaesthetics Research Society; The 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 analy...
Genetic characterization of 32 X-InDels in a population sample from São Paulo S...
Martinez, Juliana [UNESP]; Polverari, Fernanda Silva [UNESP]; Silva, Flávia Alves de Jesus [UNESP]; Braganholi, Danilo Faustino [UNESP]Made available in DSpace on 2019-10-06T16:48:41Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-09-01; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); X-chromosomal markers can be useful in some forensic cases, where the analysis of the autosomal markers is not conclusive. In this study, a population sample of 500 unrelat...
New sequence variants detected at DXS10148, DXS10074 and DXS10134 loci
Gomes, Iva; Brehm, António; Gusmão, Leonor; Schneider, Peter M.A great amount of population and forensic genetic data are available for X-STRs supporting the need for having a common and accurate nomenclature among laboratories allowing for better communication, data exchange, and data comparison. DXS10148, DXS10074 and DXS10134 are commonly used X-STRs particularly due to their inclusion in the commercial kit Investigator Argus X-12 (Qiagen). Samples from West Africa and ...
Mosaic maternal ancestry in the Great Lakes region of East Africa
Gomes, Verónica; Pala, Maria; Salas, Antonio; Álvarez‑Iglesias, Vanesa; Amorim, António; Gómez‑Carballa, Alberto; Carracedo, Ángel; Clarke, Douglas J.The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the product of a small number of major dispersals. However, our knowledge of these dispersals relies primarily on the inferences of historical, linguistics and oral traditions, with attempts to match up the archaeological evidence where possible. This is an obviou...
Analysis of paternal lineages in Brazilian and African populations
Carvalho, Mónica; Brito, Pedro; Lopes, Virgínia; Andrade, Lisa; Anjos, Maria João; Real, Francisco Corte; Gusmão, LeonorThe present-day Brazilian population is a consequence of the admixture of various peoples of very different origins, namely, Amerindians, Europeans and Africans. The proportion of each genetic contribution is known to be very heterogeneous throughout the country. The aim of the present study was to compare the male lineages present in two distinct Brazilian populations, as well as to evaluate the African contri...
Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of E...
Alves, Joana; Machado, Patrícia; Silva, João; Gonçalves, Nilza; Ribeiro, Letícia; Faustino, Paula; Rosário, Virgílio Estólio do; Manco, LicínioMalaria has occurred in the Cabo Verde archipelago with epidemic characteristics since its colonization. Nowadays, it occurs in Santiago Island alone and though prophylaxis is not recommended by the World Health Organization, studies have highlight the prospect of malaria becoming a serious public health problem as a result of the presence of antimalarial drug resistance associated with mutations in the parasit...
Analysis of 10 X-linked tetranucleotide markers in mixed and isolated populations
Zarrabeitia, María T.; Pinheiro, Fátima; de Pancorbo, Marian M.; Cainé, Laura; Cardoso, Sergio; Gusmão, Leonor; Riancho, José A.We have applied a recently described X-STRs decaplex to characterize four population groups of the Iberian Peninsula, including two well mixed populations and two relatively isolated ones from Northern Spain, in order to get a better insight about the characteristics of X-STRs in those population types between-population differences in allelic frequencies were relatively small. Nevertheless, Fst values were bet...