Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies
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 th...
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todo:paper_18751768_v6_n_pe601_AntaoSousa2023-10-03T16:34:11Z Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies 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. 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 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. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_18751768_v6_n_pe601_AntaoSousa |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
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 |
| spellingShingle |
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 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. Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies |
| topic_facet |
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 |
| description |
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. |
| format |
JOUR |
| author |
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. |
| author_facet |
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. |
| author_sort |
Antão-Sousa, S. |
| title |
Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies |
| title_short |
Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies |
| title_full |
Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies |
| title_fullStr |
Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies |
| title_full_unstemmed |
Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies |
| title_sort |
mutation rates and segregation data on 16 y-strs: an update to previous ghep-isfg studies |
| url |
http://hdl.handle.net/20.500.12110/paper_18751768_v6_n_pe601_AntaoSousa |
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