Microsatellites’ mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study

• Autores: Antão Sousa, Sofia; Gusmão, Leonor; Modesti, Nidia Maria; Feliziani, Sofía; Faustino, Marisa; Marcucci, Valeria Cecilia; Sarapura, Claudia; Ribeiro, Julyana; Carvalho, Elizeu; Pereira, Vania; Tomas, Carmen; de Pancorbo, Marian M.; Baeta Bafalluy, Miriam; Alghafri, Rashed; Almheiri, Reem; Builes, Juan José; Gouveia, Nair; Burgos, German; Pontes, Maria de Lurdes; Ibarra, Adriana; da Silva, Claudia Vieira; Parveen, Rukhsana; Benitez, Marc; Amorim, António; Pinto, Nadia
• Año de publicación: 2023
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: Y CHROMOSOME; SHORT TANDEM REPEATS; MUTATION
• Institución: Consejo Nacional de Investigaciones Científicas y Técnicas

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.
Fil: Antão Sousa, Sofia. Universidad de Porto; Portugal
Fil: Gusmão, Leonor. Universidade do Estado de Rio do Janeiro; Brasil
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
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
Fil: Faustino, Marisa. Universidad de Porto; Portugal
Fil: Marcucci, Valeria Cecilia. Gobierno de la Provincia de Santa Cruz. Poder Judicial de la Provincia de Santa Cruz.; Argentina
Fil: Sarapura, Claudia. Gobierno de la Provincia de Santa Cruz. Poder Judicial de la Provincia de Santa Cruz.; Argentina
Fil: Ribeiro, Julyana. Universidade do Estado de Rio do Janeiro; Brasil
Fil: Carvalho, Elizeu. Universidade do Estado de Rio do Janeiro; Brasil
Fil: Pereira, Vania. University Of Copenhagen. Faculty Of Health And Medical Sciences.; Dinamarca
Fil: Tomas, Carmen. University Of Copenhagen. Faculty Of Health And Medical Sciences.; Dinamarca
Fil: de Pancorbo, Marian M.. Universidad del País Vasco; España
Fil: Baeta Bafalluy, Miriam. Universidad del País Vasco; España
Fil: Alghafri, Rashed. International Center For Forensic Sciences; Emiratos Arabes Unidos
Fil: Almheiri, Reem. International Center For Forensic Sciences; Emiratos Árabes Unidos
Fil: Builes, Juan José. Universidad de Antioquia; Colombia
Fil: Gouveia, Nair. Instituto Nacional de Medicina Legal E Ciencias Forense; Portugal
Fil: Burgos, German. Universidad de Santiago de Compostela; España. Universidad de Las Américas; Ecuador
Fil: Pontes, Maria de Lurdes. Instituto Nacional de Medicina Legal E Ciencias Forense; Portugal
Fil: Ibarra, Adriana. Universidad de Antioquia; Colombia
Fil: da Silva, Claudia Vieira. Instituto Nacional de Medicina Legal e Ciências Forenses; Portugal
Fil: Parveen, Rukhsana. University of the Punjab; Pakistán
Fil: Benitez, Marc. Laboratorio Biología Policia de Catalunya; España
Fil: Amorim, António. Universidad de Porto; Portugal
Fil: Pinto, Nadia. Universidad de Porto; Portugal