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한국인 집단에서 미토콘드리아 DNA의 'Asian-specific 9-bp결실'다형현상
김욱,진한준 단국대학교 1999 論文集 Vol.34 No.-
Length changes in mitochondrial DNA (mtDNA) offer a useful marker for the study of female aspects of human population history. One such length change is the intergenic COⅡ/tRNA^Lys 9-bp deletion, which the region usually contains two tandemly arranged copies of a 9-bp sequence (ccccctcta) in human mtDNA. This deletion has been reported at varying frequencies in populations from Asia. Polynesia, the New World, and sub-Saharan Africa. This genetic polymorphism of mtDNA was analyzed in samples from 171 unrelated individuals from the Korean population and compared the frequency and distribution of 9-bp deletion with other Asian population. The frequency of the 9-bp deletion was found to be 17.5% (30/171) in the Korean populations. Uncommonly, a new insertion allele of approximately 6-bp in the intergenic COⅡ/tRNA^Lys region in the Korean population (2/171) was first identified in this study. East Asian populations including Chinese. Japanese, and Koreans were relatively homogeneous in the frequency of 9-bp deletion. with the exception of the low frequency of this deletion in Mongolians. On the other hand, Indonesians and Malaysians of Southeast Asian populations were found to show relatively high frequencies of the 9-bp deletion. Based on results of the frequencies of the 9-bp deletion, the Japanese population appeared to have a closer genetic relationship to Koreans than to the other surveyed Asian populations. Therefore, the results of this study also supported the hypothesis that a large amount of the gene pool in mainland Japanese was derived from the continental gene flow after the Yayoi Age.
Han, Myun Soo,Hong, Seung Beom,Choi, Sang Kyu,Cho, Youl Hey,Jin, Han Jun,Kwak, Kyoung Don,Kim, Wook,Kim, Jong Bong,Son, Su Min 한국유전학회 2002 Genes & Genomics Vol.24 No.1
We analyzed variations at thirteen Combined DNA Index System (CODIS) short tandem repeat (STR) loci (CSF1PO, FGA, THO1, TPOX, vWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, and D21S11) in a sample from 130 unrelated individuals in the Korean population. Allele and genotype frequencies were determined using commercial PCR amplification kits. The Exact Test demonstrated that all loci were found to be no deviations from Hardy-Weinberg expectations (P>0.05). The distribution pattern of allele frequencies of the 13 STR loci reflected a common genetic affinity in contemporary populations from east Asians, but the Koreans are more closely related with the Chinese than to the Japanese and Vietnamese in east Asians surveyed so far. Based on the results of allele frequencies of the 13 CODIS STR loci, Koreans studied here were the most significantly different from those of African-American and Caucasian. For forensic testing, the power of discrimination (PD) index ranged from 0.760 at TPOX to 0.961 at FGA. The combined probability of match (PM) calculated from all 13 core CODIS STR loci was 1.94×10 exp (-14), which is highly informative. Therefore, the Korean 13 CODIS STR data could be useful for the regional specific and prerequisite references to the forensic community.