Mutations in 14 Y-STR loci among Japanese father-son haplotypes

Int J Legal Med. 2004 Jun;118(3):125-31. doi: 10.1007/s00414-003-0422-3. Epub 2004 Jan 9.


In the present study 161 Japanese father/son haplotype transfers in 147 pedigrees were analyzed at 14 Y-STRs with two multiplex PCR-based typing systems. Five isolated single repeat mutations were identified at the DYS389I, DYS439, Y-GATA-H4, DYS389II and DYS391 loci, and a pedigree showing triple alleles at the DYS385 locus (a duplicate locus) without allelic discrepancy between the father and son was also observed. The overall mutation rate estimated across the 14 Y-STRs in the Japanese population was 0.22%/locus/meiosis (95% C.I. 0.09-0.51%). This rate was not significantly different (p>0.05) from those of autosomal STRs and Y-STRs in other populations, including German, Austrian, Polish and Norwegian populations. Furthermore, 138 haplotypes were identified in 147 pedigrees with a haplotype diversity value of 0.9983. Therefore, a combination of the two systems should permit effective analysis with sufficient discriminatory power.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asians
  • Chromosomes, Human, Y / genetics*
  • Family
  • Genetics, Population
  • Haplotypes*
  • Humans
  • Japan
  • Male
  • Mutation*
  • Pedigree
  • Tandem Repeat Sequences*