Allele detection and population study in Japanese using two STR loci (CYP19 and HUMTH01).

Allele fragments at two polymorphic short tandem repeat (STR) loci, CYP19 and HUMTH01, were simultaneously amplified in a sample of 200 unrelated Japanese individuals living in the Kanto area, including Tokyo. After electrophoresis in PAG, the new alleles 7, 10, 11, 12, and 13 were detected at the CYP19 locus in Japanese. HUMTH01 allele frequencies in Japanese differed greatly from those reported for Caucasians and Asians living in the US. The polymorphism information content (PIC) in Japanese was calculated as 0.46 for CYP19 and 0.66 for HUMTH01. The power of discrimination (PD) was 0.7 for CYP19 and 0.86 for HUMTH01, and the combined PD was calculated as 0.96. No significant deviations from Hardy-Weinberg equilibrium could be observed for these systems.