title: Mutation rates at Y chromosome specific microsatellites.
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.
authors.affiliation: IPATIMUP, Institute of Pathology and Immunology of University of Porto, Porto, Portugal. lgusmao@ipatimup.pt
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authors.lastname: Gusmão
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authors.lastname: Sánchez-Diz
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authors.lastname: Espinheira
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authors.lastname: Fagundes de Carvalho
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authors.lastname: Farfán
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authors.lastname: Figueiredo
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authors.lastname: Marino
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authors.lastname: Pinheiro
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authors.lastname: Pontes
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authors.lastname: Prieto
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authors.lastname: Ramos-Luis
authors.forename: J A
authors.initials: JA
authors.lastname: Riancho
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authors.lastname: Souza Góes
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authors.initials: OA
authors.lastname: Santapa
authors.forename: D R
authors.initials: DR
authors.lastname: Sumita
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authors.lastname: Vallejo
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authors.initials: L
authors.lastname: Vidal Rioja
authors.forename: M C
authors.initials: MC
authors.lastname: Vide
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authors.initials: CI
authors.lastname: Vieira da Silva
authors.forename: M R
authors.initials: MR
authors.lastname: Whittle
authors.forename: W
authors.initials: W
authors.lastname: Zabala
authors.forename: M T
authors.initials: MT
authors.lastname: Zarrabeitia
authors.forename: A
authors.initials: A
authors.lastname: Alonso
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authors.lastname: Carracedo
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mesh_terms: D000367:Age Factors; D000483:Alleles; D001483:Base Sequence; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005819:Genetic Markers; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D005819:Genetic Markers