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한국인의 집단연구를 위한 동아시아인의 LY1 Retroposon 삽입다형 분석
김욱,곽경돈 한국유전학회 2001 Genes & Genomics Vol.23 No.3
We have examined a polymorphic LY1 retroposon insertion in the centromeric alphoid array of the Y-chromosome in samples from a total of 662 unrelated males from several ethnic groups of east Asia. The LY1 insertion polymorphism was detected by PCR amplification using flanking primers of the L1-alphoid junction, and electrophoresis on denaturing polyacrylamide gels followed by silver staining. Although the LY1 insertion frequencies varied among Chinese samples (mean: 6.0%), it was present at high frequencies in samples of the Miao (25.0%) and Han Chinese (21.4%), followed by Koreans (10.1%), Mongolians (8.8%), and Japanese (1.6%). This pattern of observed variation is similar to other recent surveys where it was found to be at the highest frequency in China, and was present at low frequencies in the surrounding areas, but most Caucasian and Negroid males examined so far completely lack the LY1 retroposon insertion. These findings would lead us to consider two possible explanations that Koreans are more likely related to the Chinese than to other east Asians, or that it is evidence of drift within the Korean population. The distribution pattern of LY1 insertion frequencies also reflected a common genetic affinity in contemporary populations from Korea and other parts of east Asia.
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.