title: Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil).
abstract: The 17 Y chromosome STR loci DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, GATA C4, GATA H4 and GATA A10 were analyzed in a male sample of 126 unrelated individuals from Rio de Janeiro. No shared haplotypes were observed, demonstrating the usefulness and informative power of these Y-STRs in male lineage identification in Rio de Janeiro. Pairwise haplotype analysis showed no significant differences in the comparison of Rio de Janeiro with Iberian samples from different regions of Portugal and Spain, as well as with other Caucasian samples from South America, namely Costa Rica, Buenos Aires (Argentina) and Sao Paulo (Brazil). The same set of Y-STRs was also typed in 119 father/son pairs and among 2,023 allele transfers, 8 mutations were observed with an overall mutation rate of 0.003955+/-0.001396 per locus/meiosis across the 17 loci. Except in one case, all mutations were single step. For DYS438 a four-step mutation was found which has never been reported before, where allele 10 mutated to allele 6.
authors.affiliation: Laboratorio de Diagnósticos por DNA Instituto de Biologia, Universidade do Estado do Rio de Janeiro, Brazil.
authors.forename: Andréa Carla
authors.initials: AC
authors.lastname: de Souza Góes
authors.forename: Elizeu Fagundes
authors.initials: EF
authors.lastname: de Carvalho
authors.forename: Iva
authors.initials: I
authors.lastname: Gomes
authors.forename: Dayse Aparecida
authors.initials: DA
authors.lastname: da Silva
authors.forename: Erica Helena Fonseca
authors.initials: EH
authors.lastname: Gil
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
mesh_terms: D001938:Brazil; D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D004252:DNA Mutational Analysis; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D020080:Tandem Repeat Sequences