Year: 2025
Type: article
Abstract: The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10 −4 (DXS7133) and 1.07x10 −2 (DXS10135), being 5.2 times higher in the male (4.16 ×10 −3 ) than in the female (8.01 ×10 −4 ) germline.
Authors: L. Gusmão, S. Antão-Sousa, M. Faustino, M.A. Abovich, D. Aguirre, R. Alghafri, C. Alves, A. Amorim, C. Arévalo, L. Baldassarri, C. Barletta-Carrillo, G. Berardi, C. Bobillo, L. Borjas, D.F. Braganholi, A. Brehm, J.J. Builes, L. Cainé, E.F. Carvalho, M. Carvalho, L. Catelli, R.M.B. Cicarelli, A. Contreras, D. Corach, F.G. Di Marco, M.V. Diederiche, P. Domingues, M. Espinoza, J.M. Fernandéz, M.G. García, O. García, A. Gaviria, I. Gomes, D. Grattapaglia, J. Henao, A. Hernandez, A.A. Ibarra, G. Lima, I.M. Manterola, C. Marrero, J.A. Martins, L. Mendoza, A. Mosquera, E.C. Nascimento, V. Onofri, M.M. Pancorbo, J.J. Pestano, G. Plaza, M.J. Porto, Y.C. Posada, M.L. Rebelo, E. Riego, R. Rodenbusch, A. Rodríguez, A. Rodríguez, P. Sanchez-Diz, S. Santos, F. Simão, L.M. Siza Fuentes, D. Sumita, C. Tomas, U. Toscanini, A. Trindade-Filho, C. Turchi, C. Vullo, I. Yurrebaso, V. Pereira, N. Pinto
Institutions: Universidade do Estado do Rio de Janeiro, Universidade do Porto, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, El Hospital General de Agudos Carlos G. Durand, Universidad de Alcalá, Università Cattolica del Sacro Cuore, National University of San Marcos, Favaloro Foundation, Universidad de Buenos Aires, Universidad del Zulia, Universidade Estadual Paulista (Unesp), Universidade da Madeira, National Legal Medicine Institute, Universidade Estadual de Santa Cruz, Guardia Civil, Universidad Tecnológica de Pereira, Instituto Nacional de Toxicología y Ciencias Forenses, Universidad de Antioquia, University of the Basque Country, Ayuntamiento de Valencia, Faculdade de Medicina de São José do Rio Preto, Universidade de Santiago de Compostela, Azienda Ospedaliero-Universitaria delle Marche, Universidad de Las Palmas de Gran Canaria, Nasertic (Spain), Universidade Federal do Pará, Genomic (Brazil), University of Copenhagen, Polícia Civil do Distrito Federal, Marche Polytechnic University, Centro de Matemática
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $5,020
Funders: Fundação de Amparo à Pesquisa do Estado de São Paulo, Ministério da Ciência, Tecnologia e Inovação, Conselho Nacional de Desenvolvimento Científico e Tecnológico, Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro, Programa Operacional Temático Factores de Competitividade, Fundação para a Ciência e a Tecnologia, European Regional Development Fund
Awards: G1137421038, G1167214205, G1446595743, G1516346500, G1578237752, G1763632427, G1795752003, G1896966118, G1961877114, G198576669, G274581676, G3840324753, G4724859719, G498092695, G5224927334, G5677667711, UID/BIM/04293 .: Instituto de Investigação e Inovação em Saúde, G7028672227, G7428717003, G7965899483, G812493963
OpenAlex ID: W4406864540