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Forensic Genetic Analysis for the PowerPlex-16 System in the Korean Population
진한준,곽경돈,홍승범,조율희,한면수,김욱 한국유전학회 2007 Genes & Genomics Vol.29 No.4
We have analyzed 15 short tandem repeat (STR) markers included the Power Plex-16 (Promega) kit in a sample of 165 unrelated individuals from Korforensic parameters were calculated to provide an expanded and reliable forensic database. The Exact Test demonstrated that al loci surveyed here were found to be no deviation from Hardy-Weinberg equilibrium. Statistical analyses based on allele frequencies of the 15 STR loci show that twelve Eurasian populations tested can be clasified into two distinct clusters; apanese of the East Asian cluster but tend to be diferent from the European cluster. The calculated parameters showed Penta E to be the most valuable marker from the STR loci studied. The combined probability of match calculated from 15 STR loci was 2.19× 10-17, which is highly informative. Our data, r STRs, as wel as provide valuable information for forensic and population genetic studies in the Korean population.
Y-chromosome Haplogroup C Lineages and Implications for Population History of Korea
진한준,곽경돈,홍승범,김욱 한국유전학회 2006 Genes & Genomics Vol.28 No.3
We analyzed Y-chromosome variation for identification of haplogroup C lineages (RPS4Y711transition) in 680 males from eleven ethnic groups in east Asia to study the male lineage history of Korea. The haplogroup C lineages were further typed with the M217 binary marker to define the lineage C3, together with six Y-STR markers for evaluation of population diversity. Our result is consistent with previous reports that the lineages C3 were common in northeast Asia (especially, Mongolia), while these M217-derived lineages were absent in haplogroup C lineages seen in most southeast Asia, except for the Yunnan-Han and Vietnamese populations. The moderate frequency of haplogroup C3 lineages(14.9%) and their high genetic diversity of Y-STR haplotypes (>0.99) in Korea imply population diversification and deep population depth, as well as a genetic influence from northern populations of east Asia. The occurrence of high frequencies of the M217 sublineages and their low genetic diversities in Siberia might be not only a result of the influence of genetic drift and founder effect, but also diversification resulting from the prehistoric northward migration of the haplogroup C lineages.
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.
홍승범,진한준,곽경돈,김욱 한국유전학회 2006 Genes & Genomics Vol.28 No.1
The analysis of Y-chromosome variation has become a useful tool for studies of the prehistoric migration route(s) and population expansions in human populations. A total of twelve Y-chromosome binary markers (D-YAP, C-RPS4Y711, M9, M214, M175, M119, P31, M95, SRY+465, DXYS5Y, M122, and LINE1) in 709 males from 11 ethnic groups was used to examine the distribution of the east Asian paternal lineages, and to evaluate the relative contribution of haplogroup O3-M122 lineages for the peopling of Korea. Our result is consistent with previous reports that the major Y-chromosomal expansions in east Asia were those of haplogroup O-M175 and its sublineages. Especially, haplogroup O3-M122 (a sublineage of haplogroup O-M175) appeared to be widespread and common in China and its surrounding regions. These results suggest that the haplogroup O3-M122 lineage may have originated mainland east Asia (probably southern China) and been extended into the surrounding populations. Thus, the earliest evidence of the ancient origins of east Asian agriculture and population studies imply that the preponderance of O3-M122, O2-P31, and their sublineages in Korea might be due to the influence of demographic process related to the early massive spreads of mainly male-mediated agriculture into the region.