Gusmao2005 (Article)

Gusmao L., Sanchez Diz P., Calafell F., Martin P., Alonso CA., Alvarez Fernandez F., Alves C., Borjas Fajardo L., Bozzo WR., Bravo ML., Builes JJ., Capilla J., Carvalho M., Castillo C., Catanesi CI., Corach D., Di Lonardo AM., Espinheira R., Fagundes De Carvalho E., Farfan MJ., Figueiredo HP., Gomes I., Lojo MM., Marino M., Pinheiro MF., Pontes ML., Prieto V., Ramos Luis E., Riancho JA., Souza Goes AC., Santapa OA., Sumita DR., Vallejo G., Vidal Rioja L., Vide MC., Vieira Da Silva CI., Whittle MR., Zabala W., Zarrabeitia MT., Alonso A., Carracedo A., Amorim A. (2005), 'Mutation rates at Y chromosome specific microsatellites.', Hum Mutat 26(6), 520-8 PubMed Link DOI Link ISSN 1098-1004



Abstract A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) to estimate Y-STR mutation rates. Seventeen Y chromosome STR loci (DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, DYS635 [GATA C4], GATA H4, and GATA A10) were analyzed in a sample of 3,026 father/son pairs. Among 27,029 allele transfers, 54 mutations were observed, with an overall mutation rate across the 17 loci of 1.998 x 10(-3) (95% CI, 1.501 x 10(-3) to 2.606 x 10(-3)). With just one exception, all of the mutations were single-step, and they were observed only once per gametogenesis. Repeat gains were more frequent than losses, longer alleles were found to be more mutable, and the mutation rate seemed to increase with the father's age. Hum Mutat 26(6), 520-528, 2005. (c) 2005 Wiley-Liss, Inc. Porto, Portugal

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