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

Int J Legal Med. 2008 Nov;122(6):529-33. doi: 10.1007/s00414-008-0265-z. Epub 2008 Jul 24.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Argentina
  • Brazil
  • Chromosomes, Human, Y*
  • DNA Fingerprinting
  • Gene Frequency*
  • Haplotypes
  • Humans
  • International Cooperation
  • Male
  • Middle Aged
  • Mutation*
  • Paternity*
  • Polymerase Chain Reaction
  • Portugal
  • Spain
  • Tandem Repeat Sequences*
  • Young Adult