| Research Abstract |
We studied 17 X-STR (DXS101, DXS6789, DXS6800, DXS6803, DXS6807, DXS7132, DXS7133, DXS7423, DXS7424, DXS8377, DXS8378, DXS9895, DXS9898, DXS10011, HUMARA, HPRTB, GATA172D05) polymorphism in 98-151 unrelated Japanese individuals (52-83 males, 39-68 females) and mutation rate in 22 true biological trio families. Power of discrimination (PD) of the 17 X-STRs ranged 0.331-0.933 for male and 0.447-0.997 for female (Table 1-3). Allele frequencies and number of alleles were 0.007-0.853 and 4-35, respectively. High PD values were observed at DXS101 (0.822 male, 0.933 female), DXS6789 (0.799 male, 0.956 female), DXS8377 (0.888 male, 0.981 female), DXS9895 (0.748 male, 0.902 female), DXS10011 (0.930 male, 0.997 female), HUMARA (0.881 male, 0.975 female), and GATA172D05 (0.715 male, 0.912 female). DXS10011 showed the highest PD value among them.
We have detected two de novo alleles at the DXS10011 locus in two paternity trio cases (probabilities : >0.999999). No alleles of the mothers were found to be shared with the daughter in one case and with the son in the other case [10]. The mutation events seem to have occurred during oogenesis, probably by replication slippage. Further studies are needed to evaluate the mutation rate at the locus.
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