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Hong ChangBum

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Study of genome-wide SNPs, mitochondrial DNA and Y-chromosomal DNA variation can provide a valuable information about the population structure and peopling of human populations. To explain a genetic homogeneity of Koreans and population structure of Koreans and the East Asian populations, we analyzed 153 individuals from the Korea and 77 individuals from the East Asia at 46,559 common single-nucleotide polymorphic loci. The 137 CHB and 113 JPT individuals at 25,769 common SNPs from the International HapMap project were further analyzed to reveal the population structure of the East Asians. Principal Component analyses (PCA) and population differentiation () are examined. In the PCA test, the Jeju individuals were slightly different from other Koreans but their values were not significant. This reflect the genetic homogeneity of Korea population. In general, all the individual samples studied here were clustered into subset of ethnic origin according to their geographical location except Mongolians. Whole genome sequencing of Koreans and other population genome by next generation sequencing technology will provide great opportunity to understand the population expansion and peopling of Korea better.

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Single Nucleotide Polymorphism (SNP) is the genetic variation most frequently occurred in human genome. SNP is considered as one of the well characterized genetic marker which is useful for the research on human disease genomics as well as the human population stratification. Currently a type of structural variation in the genome, so called Copy Number Variation (CNV), have received public attention in the hope to get additional genetic information that can not be answered by SNPs. To gain insight into Korean specific genetic markers, we analyzed 54,794 SNPs from 159 individuals in 10 regional areas in Korea (CheonAn, NaJu, GimJe, UlSan, Jeju, YeonCheon, JeCheon, GoRyeong, GyeongJu, PyeongChang) and obtained from 1,629 individuals in Pan-Asia (70 population) data set. In addition, we analyzed considerable number of CNVs typed from 16 pairs of twins in Korea. In our study we were able to identify several informative SNP markers that are valuable to distinguish Korean from other ethnic groups. In addition, the investigation of the distribution of identity by descent (IBD) distance within a large Korean family provided a way to examine relationship between individuals. Another interesting finding resulted from this study include the differences in CNV patterns between identical twins. Possible application of genotype data to figuring out individual phenotypes (such as pigmentation, eye color, hair color, height, blood type, etc.) would be an additional profit obtained from this study in the hope to montage or even identify individuals (such as criminal suspects) using genotype data in the near future. In this presentation, I will discuss results generated from this study which may represent the most comprehensive characterization to date for the Korean genome.

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