Mutation rates at Y chromosome specific microsatellites
| Autor: | M.F. Pinheiro, M.J. Farfán, R. Espinheira, Leonor Gusmão, F. Álvarez-Fernández, Angel Carracedo, J. Capilla, G. Vallejo, Javier Riancho, Célia Alves, António Amorim, L. Vidal Rioja, C. Vieira da Silva, C. Castillo, Ma Conceiçao Vide, A. Di Lonardo, D.R. Sumita, H.P. Figueiredo, María T. Zarrabeitia, Cecilia Inés Catanesi, Paula Sánchez-Diz, E. Fagundes de Carvalho, M.L. Pontes, Pablo Martín, William Zabala, W.R. Bozzo, E. Ramos-Luis, Mariano Marino, Victor G. Prieto, Juan José Builes, Concepción Alonso, Martin R. Whittle, Daniel Corach, A. Alonso, Iva Gomes, M Carvalho, A.C. Souza Góes, O.A. Santapá, M.M. Lojo, M.L.J. Bravo, L. Borjas-Fajardo, Francesc Calafell |
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| Rok vydání: | 2005 |
| Předmět: |
Genetics
Genetic Markers Male Mutation rate Chromosomes Human Y Base Sequence DNA Mutational Analysis Molecular Sequence Data Age Factors Biology Y chromosome Molecular biology Gene Frequency Genetic marker Mutation (genetic algorithm) Mutation Microsatellite Humans Y-STR Allele Allele frequency Genetics (clinical) Alleles Microsatellite Repeats |
| Zdroj: | Human mutation. 26(6) |
| ISSN: | 1098-1004 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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