Genetic data and de novo mutation rates in father-son pairs of 23 Y-STR loci in Southern Brazil population.
We evaluated haplotype and allele frequencies, as well as statistical forensic parameters, for 23 Y-chromosome short tandem repeats (STRs) loci of the PowerPlex®Y23 system (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA-H4, DYS481, DYS533, DYS549, DYS570, DYS576, DYS643) in a sample of 150 apparently healthy males, resident in South Brazil. A total of 150 different haplotypes were identified. The highest gene diversity (GD) was observed for the single locus marker DYS570 (GD = 0.7888) and for a two-locus system DYS385 (GD = 0.9009). We also examined 150 father-son pairs by the same system, and a total of 13 mutations were identified in the 3450 father-son allelic transfers, with an overall mutation rate across the 23 loci of 3.768 × 10(-3) (95% CI: 3.542 × 10(-3) to 3.944 × 10(-3)). In all cases there was only one locus mutated with gain/loss of repeats in the son (5 one-repeat gains, and 7 one-repeat and 1 two-repeat losses); we observed no instances of mutations involving a non-integral number of repeats.
Laboratório de Genética Humana e Molecular, Pontifícia Universidade Católica do Rio Grande do Sul, Av. Ipiranga, 6681, Prédio 12C, Porto Alegre, RS, 90619-900, Brazil.|Laboratório de Investigação de Paternidade, Fundação Estadual de Produção em Pesquisa do Rio Grande do Sul, Av. Ipiranga, 5400, Porto Alegre, RS, 90610-000, Brazil.
Nicole Nascimento
NN
Da Fré
Laboratório de Genética Humana e Molecular, Pontifícia Universidade Católica do Rio Grande do Sul, Av. Ipiranga, 6681, Prédio 12C, Porto Alegre, RS, 90619-900, Brazil.|Laboratório de Investigação de Paternidade, Fundação Estadual de Produção em Pesquisa do Rio Grande do Sul, Av. Ipiranga, 5400, Porto Alegre, RS, 90610-000, Brazil.
Rodrigo
R
Rodenbusch
Laboratório de Genética Humana e Molecular, Pontifícia Universidade Católica do Rio Grande do Sul, Av. Ipiranga, 6681, Prédio 12C, Porto Alegre, RS, 90619-900, Brazil.|Laboratório de Investigação de Paternidade, Fundação Estadual de Produção em Pesquisa do Rio Grande do Sul, Av. Ipiranga, 5400, Porto Alegre, RS, 90610-000, Brazil.
André Zoratto
AZ
Gastaldo
Graduate Program in Biomolecular Science, University of Central Florida, P.O. Box 162366, Orlando, FL, 32816-2366, USA.|Department of Chemistry, University of Central Florida, Building 5, 4000 Central Boulevard, P.O. Box 162366, Orlando, FL, 32816-2366, USA.|National Center for Forensic Science, P.O. Box 162367, Orlando, FL, 32816-2367, USA.
Erin
E
Hanson
Graduate Program in Biomolecular Science, University of Central Florida, P.O. Box 162366, Orlando, FL, 32816-2366, USA.|Department of Chemistry, University of Central Florida, Building 5, 4000 Central Boulevard, P.O. Box 162366, Orlando, FL, 32816-2366, USA.|National Center for Forensic Science, P.O. Box 162367, Orlando, FL, 32816-2367, USA.
Jack
J
Ballantyne
Laboratório de Genética Humana e Molecular, Pontifícia Universidade Católica do Rio Grande do Sul, Av. Ipiranga, 6681, Prédio 12C, Porto Alegre, RS, 90619-900, Brazil. csalho@pucrs.br.
Clarice Sampaio
CS
Alho
D001938:Brazil; D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D005787:Gene Frequency; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D009679:Nuclear Family; D016133:Polymerase Chain Reaction
DNA; Genetic marker; Mutation rate; Paternity; Y-STR