Genetic Characteristics of 207 Microsatellite Markers in the Korean Population and in other Asian Populations

  • Choi, Su-Jin (Department of Biology, College of Natural Sciences, Kyungpook National University) ;
  • Song, Hye-Kyung (Graduate Program in EcoScience, Ewha Womans University) ;
  • Jeong, Jae-Hwan (Department of Biochemistry and Cell Biology, Skeletal Diseases Genome Research Center) ;
  • Jeon, In-Ho (Department of Orthopedic Surgery, School of Medicine, Kyungpook National University) ;
  • Yoon, Ho-Sung (Department of Biology, College of Natural Sciences, Kyungpook National University) ;
  • Chung, Ki Wha (Department of Biological Science, Kongju National University) ;
  • Won, Yong-Jin (Graduate Program in EcoScience, Ewha Womans University) ;
  • Choi, Je-Yong (Department of Biochemistry and Cell Biology, Skeletal Diseases Genome Research Center) ;
  • Kim, Un-Kyung (Department of Biology, College of Natural Sciences, Kyungpook National University)
  • 투고 : 2007.09.19
  • 심사 : 2007.10.30
  • 발행 : 2008.04.30


Microsatellites, short tandem repeats, are useful markers for genetic analysis because of their high frequency of occurrence over the genome, high information content due to variable repeat lengths, and ease of typing. To establish a panel of microsatellite markers useful for genetic studies of the Korean population, the allele frequencies and heterozygosities of 207 microsatellite markers in 119 unrelated Korean, Indian and Pakistani individuals were compared. The average heterozygosity of the Korean population was 0.71, similar to that of the Indian and Pakistani populations. More than 80% of the markers showed heterozygosity of over 0.6 and were valuable as genetic markers for genome-wide screening for disease susceptibility loci in these populations. To identify the allelic distributions of the multilocus genetic data from these microsatellite markers, the population structures were assessed by clustering. These markers supported, with the most probability, three clustering groups corresponding to the three geographical populations. When we assumed only two hypothetical clusters (K), the Korean population was separate from the others, suggesting a relatively deep divergence of the Korean population. The present 207 microsatellite markers appear to reflect the historical and geographical origins of the different populations as well as displaying a similar degree of variation to that seen in previously published genetic data. Thus, these markers will be useful as a reference for human genetic studies on Asians.


Allele Frequency;Heterozygosity;Korean;Microsatellites;Population


연구 과제 주관 기관 : Ministry of Commerce, Industry and Energy (MOCIE), Ministry of Health and Welfare, Korea Institute of Industrial Technology Evaluation and Planning, Rural Development Administration


  1. DeLisi, L.E., Shaw, S.H., Crow, T.J., Shields, G., Smith, A.B., Larach, V.W., Wellman, N., Loftus, J., Nanthakumar, B., Razi, K., et al. (2002). A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder. Am. J. Psychiatry 159, 803-812
  2. Kim, U.K., Jorgenson, E., Coon, H., Leppert, M., Risch, N., and Drayna, D. (2003). Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Science 299, 1221-1225
  3. Nei, M., and Roychoudhury, A. (1974). Sampling variances of heterozygosity and genetic distance. Genetics 76, 379-390
  4. Pritchard, J.K., Stephens, M., and Donnelly, P. (2000). Interference of population structure using multilocus genotype data. Genetics 155, 945-959
  5. Rosenberg, N.A., Pritchard, J.K., Weber, J.L., Cann, H.M., Kidd, K.K., Zhivotovsky, L.A., and Feldman, M.W. (2002). Genetic structure of human populations. Science 298, 2381-2385
  6. Ghebranious, N., Vaske, D., Yu, A., Zhao, C., Marth, G., and Weber, J.L. (2003). STRP screening sets for the human genome at 5 cM density. BMC Genomics 4, 6-15
  7. Drayna, D., Coon, H., Kim, U.K., Elsner, T., Cromer, K., Otterud, B., Baird, L., Peiffer, A.P., and Leppert, M.; Utah genetic reference project. (2003). Genetic analysis of a complex trait in the Utah genetic reference project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p. Hum. Genet. 112, 567-572
  8. Schellenberg, G.D., Bird, T.D., Wijsman, E.M., Orr, H.T., Anderson, L., Nemens, E., White, J.A., Bonnycastle, L., Weber, J.L., Alonso, M.E., et al. (1992). Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 258, 668-671
  9. Lewis, P.O., and Zaykin, D. (2002). Genetic data analysis: computer program for the analysis of allelic data, free program distributed by the authors over the internet from the GDA homepage at version 1.1
  10. Lu, C.H., Lin, C.G., Wang, L.M., and Wu, L.S. (2004). Heterozygosities and allelic frequencies of 811 dinucleotiderepeat marker loci in the Taiwanese population. J. Hum. Genet. 49, 325-333
  11. Mizutani, M., Yamamoto, T., Torii, K., Kawase, H., Yoshimoto, T., Uchihi, R., Tanaka, M., Tamaki, K., and Katsumata, Y. (2001). Analysis of 168 short tandem repeat loci in the Japanese population, using a screening set for human genetic mapping. J. Hum. Genet. 46, 448-455
  12. Maalej, A., Rebai, A., Ayadi, A., Jouida, J., Makni, H., and Ayadi, H. (2004). Allelic structure and distribution of 103 STR loci in a Southern Tunisian population. J. Genet. 83, 65-71
  13. Sutherland, G.R., and Richards, R.I. (1995). Simple tandem DNA repeats and human genetic disease. Proc. Natl. Acad. Sci. USA 92, 3636-3641
  14. Tan, E.C., Wu, H., Yong, R., Tan, S., Chang, J., Gan, L., and Yap. E. (2002). Heterozygosities and allelic frequencies of a set of microsatellite markers used for genome-wide scans in a Chinese population. J. Hum. Genet. 47, 623-631
  15. Rosenberg, N.A., Burke, T., Elo, K., Feldman, M.W., Freidlin, P.J., Groenen, M.A., Hillel, J., Maki-Tanila, A., Tixier- Boichard, M., Vignal, A., et al. (2001). Empirical evaluation of genetic clustering methods using multilocus genotypes from 20 chicken breeds. Genetics 159, 699-713
  16. Ikari, K., Onda, H., Furushima, K., Maeda, S., Harata, S., and Takeda, J. (2001). Establishment of an optimized set of 406 microsatellite markers covering the whole genome for the Japanese population. J. Hum. Genet. 46, 207-210