韓國人에서 多重增幅 重合酵素反應으로 分析한 STRs 遺傳座位의 遺傳的 多樣性

초록

The tetrameric STRs loci were studied in a population of Korean(n=223) for allele frequency distribution and applicability to identity and paternity testing, using multiplex PCR with electrophoresis of the PCR products in DNA sequencing gels and subsequent detection of allelic fragments by silver staining. The STRs loci analyzed were HUMCSF1PO, HUMTPOX, and HUMTHO1 ; in the Korean population, 9 alleles with their frequency range of 0.002-0.363 are detected in the HUMCSF1PO, 5 alleles with those of 0.020-1.480 in the HUMTPOX, and 6 alleles with those of 0.002-0.489 in the HUMTHO1. The highest observed heterozygosity is found at the locus HUMCSF1PO(0.709), those of the loci HUMTPOX and HUMTHO1 being 0.646 and 0.632, respectively. All loci meet Hardy-Weinberg expectations ; there are good agreement between the observed and expected values under Hardy-Weinberg equilibrium. Moreover, pairwise comparisons between loci show allelic independence for all the 3 loci comparisons. The power of discrimination (PD) determined for the locus HUMCSF1PO is 0.8896 (88.96%), that of the HUMTPOX is 0.8818(88.18%), and that for the HUMTHO1 is 0.8367(83.67%) ; the combined power of discrimination for the triplex is 0.9976(99.76%). The power of exclusion(PEX) calculated for the loci HUMCSF1PO, HUMTPOX, and HUMTHO1, being prior probability that a falsely accused father will be excluded, and 0.5173(51.73%), 0.4610(46.10%), and 0.5101(510.01%), respectively, and the cummulative power of exclusion(CPE) for all the three loci is 0.8726(87.26%). Thus, these allelic frequency data can be used to construct the database of the multiplex PCR-based DNA profile in the Korean population. The calculated parameter, "power of discrimination(PD)" and "power of exclusion(PEX)", show the informativeness of these loci for the determination of identity and relatedness of individuals.