title: Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study.
abstract: A collaborative work was carried out by the Spanish and Portuguese International Society for Forensic Genetics Working Group in order to extend the existing data on Y-short tandem repeat (STR) mutations at the 17 Y chromosome STR loci included in the AmpFlSTR YFiler kit (Applied Biosystems): DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and GATA H4.1. In a sample of 701 father/son pairs, 26 mutations were observed among 11,917 allele transfers across the 17 loci. After summing previously reported mutation data with our sample, mutation rates varied between 4.25 x 10(-4) (95% CI 0.05 x 10(-3)-1.53 x 10(-3)) at DYS438 and 6.36 x 10(-3) (95% CI 2.75 x 10(-3)-12.49 x 10(-3)) at DYS458. All mutations were single step, and mutations in the same father/son pair were found twice.
authors.affiliation: University of Santiago de Compostela, C/San Francisco, A Coruña, Spain. paulaiml@usc.es
authors.forename: Paula
authors.initials: P
authors.lastname: Sánchez-Diz
authors.forename: Cíntia
authors.initials: C
authors.lastname: Alves
authors.forename: Elizeu
authors.initials: E
authors.lastname: Carvalho
authors.forename: Mónica
authors.initials: M
authors.lastname: Carvalho
authors.forename: Rosa
authors.initials: R
authors.lastname: Espinheira
authors.forename: Oscar
authors.initials: O
authors.lastname: García
authors.forename: M Fátima
authors.initials: MF
authors.lastname: Pinheiro
authors.forename: Lurdes
authors.initials: L
authors.lastname: Pontes
authors.forename: M João
authors.initials: MJ
authors.lastname: Porto
authors.forename: Oscar
authors.initials: O
authors.lastname: Santapa
authors.forename: Cláudia
authors.initials: C
authors.lastname: Silva
authors.forename: Denilce
authors.initials: D
authors.lastname: Sumita
authors.forename: Sérgio
authors.initials: S
authors.lastname: Valente
authors.forename: Martin
authors.initials: M
authors.lastname: Whittle
authors.forename: Iñaki
authors.initials: I
authors.lastname: Yurrebaso
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001118:Argentina; D001938:Brazil; D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007391:International Cooperation; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010334:Paternity; D016133:Polymerase Chain Reaction; D011174:Portugal; D013030:Spain; D020080:Tandem Repeat Sequences; D055815:Young Adult