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dc.contributor.author
Antão Sousa, Sofia
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Gusmão, Leonor
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Modesti, Nidia Maria
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Feliziani, Sofía
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Faustino, Marisa
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Marcucci, Valeria Cecilia
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Sarapura, Claudia
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Ribeiro, Julyana
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Carvalho, Elizeu
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Pereira, Vania
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Tomas, Carmen
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de Pancorbo, Marian M.
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Baeta Bafalluy, Miriam
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Alghafri, Rashed
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Almheiri, Reem
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Builes, Juan José
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Gouveia, Nair
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Burgos, German
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Pontes, Maria de Lurdes
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Ibarra, Adriana
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da Silva, Claudia Vieira
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Parveen, Rukhsana
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Benitez, Marc
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Amorim, António
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Pinto, Nadia
dc.date.available
2024-07-02T11:41:08Z
dc.date.issued
2023-12
dc.identifier.citation
Antão Sousa, Sofia; Gusmão, Leonor; Modesti, Nidia Maria; Feliziani, Sofía; Faustino, Marisa; et al.; Microsatellites’ mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study; Elsevier Ireland; Forensic Science International: Genetics; 69; 102999; 12-2023; 1-8
dc.identifier.issn
1872-4973
dc.identifier.uri
http://hdl.handle.net/11336/238801
dc.description.abstract
The 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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier Ireland
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Y CHROMOSOME
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SHORT TANDEM REPEATS
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MUTATION
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Medicina Forense
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Otras Ciencias Médicas
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CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Microsatellites’ mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2024-07-01T10:08:21Z
dc.journal.volume
69
dc.journal.number
102999
dc.journal.pagination
1-8
dc.journal.pais
Irlanda
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dc.description.fil
Fil: Antão Sousa, Sofia. Universidad de Porto; Portugal
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Fil: Gusmão, Leonor. Universidade do Estado de Rio do Janeiro; Brasil
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Fil: Modesti, Nidia Maria. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina. Gobierno de la Provincia de Cordoba. Tribunal Superior de Justicia. Instituto de Genetica Forense.; Argentina
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Fil: Feliziani, Sofía. Gobierno de la Provincia de Cordoba. Tribunal Superior de Justicia. Instituto de Genetica Forense.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
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Fil: Faustino, Marisa. Universidad de Porto; Portugal
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Fil: Marcucci, Valeria Cecilia. Gobierno de la Provincia de Santa Cruz. Poder Judicial de la Provincia de Santa Cruz.; Argentina
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Fil: Sarapura, Claudia. Gobierno de la Provincia de Santa Cruz. Poder Judicial de la Provincia de Santa Cruz.; Argentina
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Fil: Ribeiro, Julyana. Universidade do Estado de Rio do Janeiro; Brasil
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Fil: Carvalho, Elizeu. Universidade do Estado de Rio do Janeiro; Brasil
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Fil: Pereira, Vania. University Of Copenhagen. Faculty Of Health And Medical Sciences.; Dinamarca
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Fil: Tomas, Carmen. University Of Copenhagen. Faculty Of Health And Medical Sciences.; Dinamarca
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Fil: de Pancorbo, Marian M.. Universidad del País Vasco; España
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Fil: Baeta Bafalluy, Miriam. Universidad del País Vasco; España
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Fil: Alghafri, Rashed. International Center For Forensic Sciences; Emiratos Arabes Unidos
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Fil: Almheiri, Reem. International Center For Forensic Sciences; Emiratos Árabes Unidos
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Fil: Builes, Juan José. Universidad de Antioquia; Colombia
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Fil: Gouveia, Nair. Instituto Nacional de Medicina Legal E Ciencias Forense; Portugal
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Fil: Burgos, German. Universidad de Santiago de Compostela; España. Universidad de Las Américas; Ecuador
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Fil: Pontes, Maria de Lurdes. Instituto Nacional de Medicina Legal E Ciencias Forense; Portugal
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Fil: Ibarra, Adriana. Universidad de Antioquia; Colombia
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Fil: da Silva, Claudia Vieira. Instituto Nacional de Medicina Legal e Ciências Forenses; Portugal
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Fil: Parveen, Rukhsana. University of the Punjab; Pakistán
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Fil: Benitez, Marc. Laboratorio Biología Policia de Catalunya; España
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Fil: Amorim, António. Universidad de Porto; Portugal
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Fil: Pinto, Nadia. Universidad de Porto; Portugal
dc.journal.title
Forensic Science International: Genetics
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.fsigen.2023.102999
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1872497323001746
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