Artículo
Abstract:
The increasing relevance of human Y-STRs in forensic science demands reliable estimates of their mutation rates. Therefore, a collaborative study was carried out by the Spanish and Portuguese working group of the International Society for Forensic Genetics (GHEP-ISFG) in the interest of extending the data on Y-chromosomal short tandem repeat (Y-STR) mutation rates. Sixteen Y-STRs were considered in the analyses: DYS456, DYS389I, DYS389II, DYS390, DYS458, DYS19, DYS385, DYS391, DYS392, DYS393, DYS439, DYS635, DYS437, DYS438, DYS448, GATA H4. Among the sample of 1598 father-son duos analyzed, 46 mutations were observed, 45 of which were a single-step change and 1 was a double-step change. A total of 28 repeat losses were observed against 18 gains, with a ratio of 1:1.5. Eleven duos showing double alleles at the Y-STR loci DYS19, DYS391, DYS439 and DYS448 without allelic discrepancy between the father-son duo were also observed. This new data was added to the previous studies from the GHEP-ISFG working group, totalizing 63 496 allele transmissions (varying between 2298 and 7347 per locus). The average mutation rate across all 16 Y-STRs loci was 0.00187 (95% CI 0.00155–0.00224). The average mutation rates per marker varied between 0.00057 (95% CI 0.00007–0.00206) at DYS438 and 0.00606 (95% CI 0.00375–0.00925) at DYS439. © 2017 Elsevier B.V.
Registro:
| Documento: | Artículo |
| Título: | Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies |
| Autor: | Antão-Sousa, S.; Sánchez-Diz, P.; Abovich, M.; Alvarez, J.C.; Carvalho, E.F.; Silva, C.M.D.; Domingues, P.; Farfán, M.J.; Gutierrez, A.; Pontes, L.; Porto, M.J.; Posada, Y.; Restrepo, T.; Rodenbusch, R.; Santapá, O.A.; Schumacher, S.; Suárez, D.; Silva, C.V.; Vullo, C.; Pinto, N.; Gusmão, L. |
| Filiación: | Faculty of Sciences of the University of Porto, Porto, Portugal Institute of Pathology and Molecular Immunology from University of Porto (IPATIMUP), Portugal Instituto de Investigação e Inovação em Saúde, I3S, Universidade do Porto, Portugal Forensic Genetics Unit, Institute of Forensic Science, University of Santiago de Compostela, Galicia, Spain Banco Nacional de Datos Genéticos, Buenos Aires, Argentina Lab. Identificación Genética, Dpto. de Medicina Legal, Toxicología y Antropología Física, Universidad de Granada, Spain DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Brazil Laboratório de Investigação de Paternidade, Centro de Desenvolvimento Científico e Tecnológico (CDCT), Fundação Estadual de Produção e Pesquisa em Saúde (FEPPS), Porto Alegre, RS, Brazil Instituto Nacional de Toxicología y Ciencias Forenses (INTCF), Madrid, Spain Laboratorio de Biología Molecular, Fundación Arthur Stanley Gillow, Bogotá, Colombia Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação do Norte, Porto, Portugal Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação do Centro, Coimbra, Portugal IdentiGEN – Genetic Identification Laboratory and Research Group of Genetic Identification, Institute of Biology, School of Natural and Exact Sciences (FCEN), University of Antioquia, Medellin, Colombia Laboratorio Central, Pesquisa Neonatal, Hospital Carlos G. Durand, Buenos Aires, Argentina Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação do Sul, Lisboa, Portugal DNA Forensic Laboratory, Argentinean Forensic Anthropology Team (EAAF), Córdoba, Argentina Center of Mathematics of the University of Porto, Portugal |
| Palabras clave: | Mutation rates; Mutation rates of Y-STRs; Y chromosome; Y-STRs; allele; Article; father; gene duplication; gene locus; human; male; mutation rate; null allele; priority journal; short tandem repeat; Y chromosome |
| Año: | 2017 |
| Volumen: | 6 |
| Página de inicio: | e601 |
| Página de fin: | e602 |
| DOI: | http://dx.doi.org/10.1016/j.fsigss.2017.10.008 |
| Título revista: | Forensic Science International: Genetics Supplement Series |
| Título revista abreviado: | Forensic Sci. Int. Genet. Suppl. Ser. |
| ISSN: | 18751768 |
| Registro: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_18751768_v6_n_pe601_AntaoSousa |
Referencias:
- Gusmão, L., Sánchez-Diz, P., Calafell, F., Mutation rates at Y chromosome specific microsatellites (2005) Hum. Mutat., 26, pp. 520-528
- Sánchez-Diz, P., Alves, C., Carvalho, E., Population and segregation data on 17 Y-STRs: results of a GEP ISFG collaborative study (2008) Int. J. Legal Med., 122, pp. 529-533
Citas:
---------- APA ----------
Antão-Sousa, S., Sánchez-Diz, P., Abovich, M., Alvarez, J.C., Carvalho, E.F., Silva, C.M.D., Domingues, P.,..., Gusmão, L. (2017) . Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies. Forensic Science International: Genetics Supplement Series, 6, e601-e602.http://dx.doi.org/10.1016/j.fsigss.2017.10.008
---------- CHICAGO ----------
Antão-Sousa, S., Sánchez-Diz, P., Abovich, M., Alvarez, J.C., Carvalho, E.F., Silva, C.M.D., et al. "Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies" . Forensic Science International: Genetics Supplement Series 6 (2017) : e601-e602.http://dx.doi.org/10.1016/j.fsigss.2017.10.008
---------- MLA ----------
Antão-Sousa, S., Sánchez-Diz, P., Abovich, M., Alvarez, J.C., Carvalho, E.F., Silva, C.M.D., et al. "Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies" . Forensic Science International: Genetics Supplement Series, vol. 6, 2017, pp. e601-e602.http://dx.doi.org/10.1016/j.fsigss.2017.10.008
---------- VANCOUVER ----------
Antão-Sousa, S., Sánchez-Diz, P., Abovich, M., Alvarez, J.C., Carvalho, E.F., Silva, C.M.D., et al. Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies. Forensic Sci. Int. Genet. Suppl. Ser. 2017;6:e601-e602.http://dx.doi.org/10.1016/j.fsigss.2017.10.008
