title: Mutations in 14 Y-STR loci among Japanese father-son haplotypes.
abstract: 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.
authors.affiliation: Department of Legal Medicine and Bioethics, Graduate School of Medicine Nagoya University, 466-8550 Nagoya, Japan. rina@med.nagoya-u.ac.jp
authors.forename: Rina
authors.initials: R
authors.lastname: Kurihara
authors.forename: Toshimichi
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Rieko
authors.initials: R
authors.lastname: Uchihi
authors.forename: Shi-Lin
authors.initials: SL
authors.lastname: Li
authors.forename: Takashi
authors.initials: T
authors.lastname: Yoshimoto
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ohtaki
authors.forename: Kiyofumi
authors.initials: K
authors.lastname: Kamiyama
authors.forename: Yoshinao
authors.initials: Y
authors.lastname: Katsumata
mesh_terms: D000483:Alleles; D044466:Asian People; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005190:Family; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D010375:Pedigree; D020080:Tandem Repeat Sequences