title: Mutation rate estimates for 13 STR loci in a large population from Rio Grande do Sul, Southern Brazil.
abstract: Short tandem repeat (STR) polymorphisms have been extensively used in forensic genetics analysis. Knowledge about the locus-specific mutation rates of STRs improves forensic probability calculations and interpretations of diversity data. To incorporate single-locus diversity information into autosomal STR mutation rate estimations, 13 STR loci were studied during 2007-2009 in 10,959 paternity investigation cases from Rio Grande do Sul, the southernmost state of Brazil, covering an overall number of 284,934 allelic transfers. A total of 355 mutations were identified; 348 repeats were gains or losses of one step, three were gains or losses of two steps, and four were gains or losses of not stepwise mutation. The mutation rates ranged from 4.6 × 10(-5) to 2.3 × 10(-3), and the overall mutation rate estimate was 1.2 × 10(-3). The average of the paternal mutation rate (1.8 × 10(-3)) was five times higher than the maternal rate (0.36 × 10(-3)). The observed mutational features for STRs have important consequences for forensic applications, including the definition of criteria for exclusion in paternity testing and the interpretation of DNA profiles in identification analysis.
authors.affiliation: Laboratório de Investigação de Paternidade, Centro de Desenvolvimento Científico e Tecnológico (CDCT), Fundação Estadual de Produção e Pesquisa em Saúde (FEPPS), Av. Ipiranga, 5400, Jardim Botânico, 90610-000, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Ana Carolina
authors.initials: AC
authors.lastname: Mardini
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Rodenbusch
authors.forename: Simone
authors.initials: S
authors.lastname: Schumacher
authors.forename: Fernanda Goulart Lanes
authors.initials: FG
authors.lastname: Chula
authors.forename: Candice Tosi
authors.initials: CT
authors.lastname: Michelon
authors.forename: André Zoratto
authors.initials: AZ
authors.lastname: Gastaldo
authors.forename: Lila Partichelli
authors.initials: LP
authors.lastname: Maciel
authors.forename: Sabrina Esteves
authors.initials: SE
authors.lastname: de Matos Almeida
authors.forename: Cláudia Maria Dornelles
authors.initials: CM
authors.lastname: da Silva
mesh_terms: D001938:Brazil; D016172:DNA Fingerprinting; D005260:Female; D056426:Genetic Loci; D005828:Genetics, Population; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D059645:Mutation Rate; D016133:Polymerase Chain Reaction
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