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Korean Journal of Legal Medicine 1994;18(1):60-70.
Estimates of Allelic Frequencies and Genetic Diversity at VNTR D1S80 Revealed Genetic Homogeneity in Korean
Chi Hong Kim , Hyeon Koon Myeong , Yong Pyo Hong , Juck Joon Hwang
Department of Orthopedic Surgery, College of Medicine, Ewha Women’s University, Seoul, Korea Department of Legal Medicine, College of Medicine, Korea University, Seoul, Korea
Human gcnomic DNA prepared from whole blood sample was analyzed to estimate allelic frequencies and genetic diversity at a hypervariablc variable number of tandem repeats (VNTR) D1S80 locus in 127 Korean Target DNA fragments were amplified by polymerase chain reaction(PCR) and separated by polyacrylamide gelelectrophores is. Then, the following results were obtained. 1. A total of 23 alleles were identified at this locus, which is the biggest number of alleles observed at this locus so far (cf. 16 from U. S. Caucasians and 15 from Finnish ) . 2. Sixty-two genotypes, included 3 liomozygotes and 59 heterozygotes, out of a tot al of 276 probable genotypes were also observed, which might be resulted from the small sample size compared to the number of alleles observed in this study. 3. General pattern of allelic distribution was concordant with those observecl in previous studies from Finnish and U.S. Cauccasians where two alleles, M18 and M23, were observed most frequently and the rest of them were observed rare (<10%) with the exception of M30 allele (14.6%) in Korean. The number of M30 allele is suspected to be increased in Korean at or after the divergence of Korean from the hypothetical ancestor probably caused by r'andom genetic drift such as founder effect or bottleneck effect. 4. Higher level of heterozygosity was obtained in Korean(H=0.866 and H=0.881) than in Finnish(H=0.77 and H=0.79) and U.S. Cauccasians (H=0.808 and H=0.797). 5. Population homogeneity was tested to corroborate the obtained population genetic parameters calculated based on the assumption of Hardy-Weinberg equilibrium, which could be done by Chi-square test between the obser ved number of alleles and the expected number of alleles, because of the small sample size analyzed in this study which resulted in high proportion of undetected genotypes(78.5%) and several genotypes significantly deviated from Hardy-Weinberg exception in a sample population. The result suggests that samples were drawn from genetically homogenous population. 6. This study suggests that Korean is more diversified than Finnish and U.S. Cauccasians on the basis of the number of alleles and the level of heterozygosity, although Korean is known to be entirely composed of single race. Though we need more information from other Asian countries, this result suggest frequent gene flow from neighbor countries, which is also expected based on the old Korean history of frequent invasions from Japan and China. 7. Based on the Hardy-Weinberg expection, 216 out of 253 genotypes at D1S80 locus can be shared by less than 5 individuals among 1,000 unrelated individuals by chance. Our results suggest that the analysis of VNTR D1S80 locus can provide powerful, but imperfect by itself, DNA markers for forensic study, which can be corroborated by analyzing additional VNTR loci.


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