Dimeric short tandem repeat polymorphism analysis using automated fluorescent detection in Korean population

Abstract

The short tandem repeat (STR) loci with (CA)n repeats (D10S201, D12S85, D17S849, D18S57, D18S62, D19S210, D20S117, D21S262, D21S270, D22S280) were amplified using fluorescently labeled primers and were analyzed by Genescan software. The relative allele frequencies exhibited the obvious bimodal distribution in the D20S117 locus and nine loci generally showed a tendency of bimodal distribution concealing a high degree of diversity. The number of alleles was observed ranging from 7 to 14. The most common allele frequency for each marker was generally low showing below 0.5 with the exception of D21S270 (0.571 in frequency). Although there was a deviation from the Hardy-Weinberg equilibrium noted at the D10S20 locus, genotype data from the others were consistent overall with the Hardy-Weinberg equilibrium. The heterozygosities showed ranging from 0.635 to 0.865 and nine loci showed above 0.7 with the exception of D21S270. These STRs were highly polymorphic, with the polymorphism information content (PIC) values ranging from 0.609 to 0.851. Eight STRs showed a PIC above 0.7 with the exception of D21S270 and D18S62, confirming the high informativeness of (CA)n repeats in general. D20S117 was the most informative locus with a heterozygosity of 0.865 and with a PIC of 0.851. These results suggested that it is possible for these STRs to be the efficient markers for linkage mapping of genetic disease genes and for construction of high resolution linkage maps. © 1996 The Korean Society for Molecular Biology.