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International Journal of Legal Medicine
Published in: International Journal of Legal Medicine 6/2008

01-11-2008 | Short Communication

Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study

Authors: Paula Sánchez-Diz, Cíntia Alves, Elizeu Carvalho, Mónica Carvalho, Rosa Espinheira, Oscar García, Mª Fátima Pinheiro, Lurdes Pontes, Mª João Porto, Oscar Santapa, Cláudia Silva, Denilce Sumita, Sérgio Valente, Martin Whittle, Iñaki Yurrebaso, Angel Carracedo, António Amorim, Leonor Gusmão, GEP-ISFG (The Spanish and Portuguese Working Group of the International Society for Forensic Genetics)

Published in: International Journal of Legal Medicine | Issue 6/2008

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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 × 10−4 (95% CI 0.05 × 10−3–1.53 × 10−3) at DYS438 and 6.36 × 10−3 (95% CI 2.75 × 10−3–12.49 × 10−3) at DYS458. All mutations were single step, and mutations in the same father/son pair were found twice.
Appendix
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Metadata
Title
Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study
Authors
Paula Sánchez-Diz
Cíntia Alves
Elizeu Carvalho
Mónica Carvalho
Rosa Espinheira
Oscar García
Mª Fátima Pinheiro
Lurdes Pontes
Mª João Porto
Oscar Santapa
Cláudia Silva
Denilce Sumita
Sérgio Valente
Martin Whittle
Iñaki Yurrebaso
Angel Carracedo
António Amorim
Leonor Gusmão
GEP-ISFG (The Spanish and Portuguese Working Group of the International Society for Forensic Genetics)
Publication date
01-11-2008
Publisher
Springer-Verlag
Published in
International Journal of Legal Medicine / Issue 6/2008
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI
https://doi.org/10.1007/s00414-008-0265-z

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