Percorrer por autor "de Pancorbo, Marian M."
A mostrar 1 - 5 de 5
Resultados por página
Opções de ordenação
- Analysis of 10 X-linked tetranucleotide markers in mixed and isolated populationsPublication . 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 between 0.2 and 2.7%, figures higher than usually reported for autosomic STRs. This result suggests that when forensic cases originate from relatively isolated groups in western Europe, and a specific reference database is not available, it is probably safe to include a Fst-based correction in the calculations of matching or kinship probabilities.
- Cytochrome b as a useful tool for the identification of blowflies of forensic interest (Diptera, Calliphoridae)Publication . GilArriortua, Maite; Salona Bordas, Marta I.; Cainé, Laura; Pinheiro, Fátima; de Pancorbo, Marian M.
- Microsatellites’ mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative studyPublication . Antão-Sousa, Sofia; Gusmão, Leonor; Modesti, Nidia M.; Feliziani, Sofía; Faustino, Marisa; Marcucci, Valeria; Sarapura, Claudia; Ribeiro, Julyana; Carvalho, Elizeu; Pereira, Vania; Tomas, Carmen; de Pancorbo, Marian M.; Baeta, Miriam; Alghafri, Rashed; Almheiri, Reem; Builes, Juan José; Gouveia, Nair; Burgos, German; Pontes, Lurdes; Ibarra, Adriana; Silva, Cláudia Vieira da; Parveen, Rukhsana; Benitez, Marc; Amorim, Antonio; Pinto, NádiaThe 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. Although highly dependent on the analyzed marker, mutations compatible with the gain or loss of a single repeat were 23.2 times more likely than those involving a greater number of repeats. Longer alleles (relatively to the modal one) showed to be nearly twice more mutable than the shorter ones. Within the subset of longer alleles, the loss of repeats showed to be nearly twice more likely than the gain. Conversely, shorter alleles showed a symmetrical trend, with repeat gains being twofold more frequent than reductions. A positive correlation between the paternal age and the mutation rate was observed, strengthening previous findings. The results of a machine learning approach, via logistic regression analyses, allowed the establishment of algebraic formulas for estimating the probability of mutation depending on paternal age and allele length for DYS389I, DYS393 and DYS627. Algebraic formulas could also be established considering only the allele length as predictor for DYS19, DYS389I, DYS389II-I, DYS390, DYS391, DYS393, DYS437, DYS439, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS533, DYS576, DYS626 and DYS627 loci. For the remaining Y-STRs, a lack of statistical significance was observed, probably as a consequence of the small effective size of the subsets available, a common difficulty in the modeling of rare events as is the case of mutations. The amount of data used in the different analyses varied widely, depending on how the data were reported in the publications analyzed. This shows a regrettable waste of produced data, due to inadequate communication of the results, supporting an urgent need of publication guidelines for mutation studies.
- Mitochondrial DNA diversity in a population from Santa Catarina (Brazil): predominance of the European inputPublication . Palencia, Leire; Valverde, Laura; Álvarez, Alejandra; Cainé, Laura; Cardoso, Sergio; Alfonso-Sánchez, Miguel A.; Pinheiro, M. Fátima; de Pancorbo, Marian M.The state of Santa Catarina (Brazil) is known to have represented a cultural crossroads in South America due to several historic migrations mainly from Europe and Africa. We set out to scrutinize whether the genetic imprint of these migrations could be traced through analysis of the matrilineal gene pool of the Catarinenses. The entire control region of the mitochondrial DNA was studied in 80 healthy and maternally unrelated individuals. The analysis of haplogroup distribution revealed that this population is extremely heterogeneous, showing the coexistence of matrilineal lineages with three different phylogeographic origins. European lineages are the most frequent due mainly to the impact of relatively recent migratory waves from Europe. In spite of this, Native American lineages and African lineages incorporated with the slave trade are also present in noticeable proportions. The strikingly high variability generated by intense gene flow is mirrored in a high sequence diversity (0.9930) and power of discrimination (0.9806). Thus, analysis of the entire mitochondrial DNA control region emerges as a valuable tool for forensic genetic purposes in this highly admixed population, an attribute common to several present-day Latin American populations.
- Segments HVS-I and HVS-II of mitochondrial DNA in a population from Santa Catarina (Brazil): Predominance of European lineagesPublication . Valverde, Laura; Palencia, Leire; Pinheiro, M. Fátima; Cainé, Laura; Cardoso, Sergio; Alfonso-Sánchez, Miguel A.; de Pancorbo, Marian M.The study of the hypervariable segments HVS-I and HVS-II of the mitochondrial DNA (mtDNA) control region of 80 healthy and maternally unrelated individuals revealed that the population from Santa Catarina is extremely heterogeneous, mainly due to the impact of relatively recent migratory waves from Europe. In spite of this, Native American lineages as well as African lineages incorporated much earlier are also present at noticeable proportions. This strikingly high variability generated by the intense gene flow is mirrored in a high power of discrimination (97.69%), which makes the analysis of mitochondrial HVS-I and HVS-II segments very useful for forensic genetic purposes in this Brazilian population.