TAMAKI Keiji Kyoto University, Graduate School of Medicine, Professor, 大学院・医学研究科, 教授 (90217175)
UCHIHI Rieko Nagoya University, Graduate School of Medicine, Research Associate, 大学院・医学系研究科, 助手 (20223571)
KATSUMATA Yoshinao Nagoya University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (30109326)
|Budget Amount *help
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2002: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 2001: ¥2,200,000 (Direct Cost: ¥2,200,000)
In forensic fields, short tandem repeat loci (Y-STRs) and single nucleotide polymorphisms (Y-SNPs) on Y-chromosome have been used for paternal relationship testing and for detecting genotypes originated from males in sexual assault cases. The haplotypes at 14 Y-STR loci were analyzed about two regional Japanese populations (207 in Honshu and 87 in Okinawa) and a Thai population (117) using the 10-plex (DYS436, DYS439, DYS435, DYS19, DYS460, Y-GATA-H4, DYS391, DYS392, DYS438, DYS437) devised by NIST in the USA and the commercially released Y-PLEX6 kit (DYS393, DYS19, DYS389, DYS390, DYS391, DYS385) having two common loci (DYS19 and DYS391) to the10-plex. The allele frequencies at each locus were calculated, and it was found that DYS436 was very uninformative in all populations. Accordingly, in our modified 10-plex, the locus DYS436 was changed for DYS389I, which is one of the minimal database loci in the worldwide Y-STR Database. Using the modified 10-plex and the Y-PLEX 6,14 Y-STRs were easily typed. The heredity of these 14 Y-STRs from father to the son were analyzed by using 161 Japanese father-son DNA samples, and 5 mutations were observed. Sequence analysis revealed that one repeat was gained at DYS389I, DYS439, Y-GATA-H4 and DYS389II, and one repeat was lost at DYS391 in meiosis. The overall mutation rate was calculated as 0.22%/ locus/ meiosis (95% C.I. 0.09 - 0.55%). This value is about the same as those in German and Norwegian populations. Consequently, the estimation of the mutation rates of DNA markers on Y-chromosome was achieved. Further studies are necessary about searching for the recombination hot-spots.