Paternal and maternal mutations in X-STRs: a GHEP-ISFG collaborative study

Publication date: Available online 5 February 2020Source: Forensic Science International: GeneticsAuthor(s): Nádia Pinto, Vânia Pereira, Carmen Tomas, Silvia Loiola, Elizeu F. Carvalho, Nidia Modesti, Mariana Maxzud, Valeria Marcucci, Hortensia Cano, Regina Cicarelli, Bianca Januario, Ana Bento, Pedro Brito, Germán Burgos, Elius Paz-Cruz, Laura Díez-Juárez, Silvia Vannelli, Maria de Lurdes Pontes, Gabriela Berardi, Sandra FurfuroAbstractThe 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 pooled together with other already published data. Data on fathers and mothers’ age at the time of birth of the daughter were also available for ∼93% of the cases. Population analyses were computed considering the genetic information of a subset of 1,327 unrelated daughters, corresponding to 2,654 haplotypes from residents in several regions of five countries: Argentina, Brazil, Ecuador, Portugal and Spain. Genetic differentiation analyses between the population samples from the same country did not reveal signs of significant stratification, although results from Hardy-Weinberg and linkage disequilibrium tests indicated the need for larger studies for Ecuador and Brazilian populations. The high genetic diversity of the markers resulted...
Source: Forensic Science International: Genetics - Category: Forensic Medicine Source Type: research