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The Pharmaceutical Society of Korea (대한약학회)
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Phylogenetic Analysis by RFLP and Sequencing of Mitochondrial DNA in a Korean Population

  • Lee, Jin-Young (Department of Biochemistry, College of Medicine, Inje University) ;
  • Kim, Heui-Soo (Department of Biology, College of Natural Science, Busan National University) ;
  • Ha, Bae-Jin (Department of Bioscience and Biotechnology, College of Environmental Engineering and Biotechnology, Silla University) ;
  • Park, Yeong-Hong (Department of Biochemistry, College of Medicine, Inje University)
  • Published : 2006.01.01
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Abstract

Analysis of molecular nature of mitochondrial DNA (mtDNA) could be powerful marker for anthropological studies of modern populations. While population genetic studies on mtDNA have been reported for several ethnic groups, no such study has been documented for the Korean population. We surveyed mtDNA polymorphisms in the HVS I of noncoding D-loop region and its upstream region from 430 unrelated healthy Korean population by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing analysis. PCR product with 2,790 bp spanning the specific mtDNA region (mt13715-16504) was subjected to RFLP analysis using 6 restriction enzyme (Hinf I, Hae III, Alu I, Dde I, Mbo I, Rsa I). On the PAUP analysis of PCR-RFLP results, 38 mtDNA haplotypes (Hap 1-38) were detected in the Korean populations, which were classified into 11 haplogroups (Grp 1-11) of related haplotypes encompassing all 38 haplotypes. In comparison of sequencing data with Anderson's reference sequence, the transition type was more prevalent than the transversion type. Insertions or deletions were not found. In addition, three of the polymorphic sites (A16240C, A16351G, G16384A) in HVS-I region are determined newly. The polymorphic sites were distributed randomly in the region, though the frequency at each site was variable. Thus, this research might be required for the genealogical study of Orientals.

Keywords

References

  1. Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J., Staden, R., and Young, I. G., Sequence and organization of the human mitochondrial genome. Nature, 290, 457-465 (1981) https://doi.org/10.1038/290457a0
  2. Ballinger, S. W., Schurr, T. G., Torroni, A., Gan, Y. Y., Hodge, J. A., Hassan, K., Chen, K. H., and Wallace, D. C., Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics, 130, 139-152 (1992)
  3. Bhat, P. P., Mishra, B. P., and Bhat, P. N., Polymorphism of mitochondrial DNA (mtDNA) in cattle and buffaloes. Biochem. Genet., 28, 311-318 (1990) https://doi.org/10.1007/BF02401421
  4. Cann, R. L., Stoneking, M., and Wilson, A. C., Mitochondrial DNA and human evolution. Nature, 325, 31-36 (1987) https://doi.org/10.1038/325031a0
  5. Finnila, S., Lehtonen, M. S., and Majamaa, K., Phylogenetic network for Eurpean mtDNA. Am. J. Hum. Genet., 68, 1475- 1484 (2001) https://doi.org/10.1086/320591
  6. Giles, R. E., Blanc, H., Cann, H. M., and Wallace, D. C., Maternal inheritance of human mitochondrial DNA. Proc. Natl. Acad. Sci. U.S.A., 77, 6715-6719 (1980)
  7. Graven, L., Passarino, G., Semino, O., Boursot, P., Santachiara- Benerecetti, S., Langaney, A., and Excoffier, L., Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample. Mol. Biol. Evol., 12, 334-345 (1995)
  8. Howell, N., Kubacka, I., and Mackay, D. A., How rapidly dose the human mitochondrial genome evolve? Am. J. Hum. Genet., 59, 501-509 (1996)
  9. Howell, N., Human mitochondrial diseases : answering questions and questioning answers. Int. Rev. Cytol., 186, 49- 116 (1999)
  10. Ingman, M., Kaessmann, H., Paabo, S., and Gyllensten, U., Mitochondrial genome variation and the origin of modern humans. Nature, 408, 708-713 (2000) https://doi.org/10.1038/35047064
  11. Johnson, M. J., Wallace, D. C., Ferris, S. D., Rattazzi, M. C., and Cavalli-Sforza, L. L., Radiation of human mitochondria DNA types analyzed by restriction endonucleases cleavage patterns. J. Mol. Evol., 19, 255-271 (1983) https://doi.org/10.1007/BF02099973
  12. Macaulay, V., Richards, M., Hickey, E., Vega, E., Cruciani, F., Guida, V., Scozzari, R., Bonne-Tamir, B., Sykes, B., and Torroni, A., The emerging tree of West Eurasian mtDNAs : a synthesis of control-region sequences and RFLPs. Am. J. Hum. Genet., 64, 232-249 (1999) https://doi.org/10.1086/302204
  13. Richards, M., Corte-Real, H., Forster, P., Macaulay, V., Wilkinson- Herbots, H., Demaine, A., Papiha, S., Hedges, R., Bandelt, H. J., and Sykes, B., Paleolithic and neolithic lineages in the European mitochondrial gene pool. Am. J. Hum. Genet., 59, 185-203 (1996)
  14. Richards, M. B., Macaulay, V. A., Bandelt, H. J., and Sykes, B. C., Phylogeography of mitochondrial DNA in western Euroupe. Ann. Hum. Genet., 62, 241-260 (1998) https://doi.org/10.1046/j.1469-1809.1998.6230241.x
  15. Rose, G., Passarino, G., Carrieri, G., Altomare, K., Greco, V., Bertolini, S., Bonafe, M., Franceschi, C., and De Benedictis, G., Paradoxes in longevity : sequence analysis of mtDNA haplogroup J in centenarians. Eur. J. Hum. Genet., 9, 701- 707 (2001) https://doi.org/10.1038/sj.ejhg.5200703
  16. Schurr, T. G., Sukernik, R. I., Starikovskaya, Y. B., and Wallace, D. C., Mitochondrial DNA variation in Koryaks and Itel'men : population replacement in the Okhotsk Sea-Bering Sea region during the Neolithic. Am. J. Phys. Anthropol., 108, 1- 39 (1999) https://doi.org/10.1002/(SICI)1096-8644(199901)108:1<1::AID-AJPA1>3.0.CO;2-1
  17. Stoneking, M., Jorde, L. B., Bhatia, K., and Wilson, A. C., Geographic variation in human mitochondrial DNA from Papua New Guinea. Genetics, 124, 717-733 (1990)
  18. Torroni, A., Huoponen, K., Francalacci, P., Petrozzi, M., Morelli, L., Scozzari, R., Obinu, D., Savantaus, M. L., and Wallace, D. C., Classification of European mtDNAs from an analysis of three European populations. Genetics, 144, 1835-1850 (1996)
  19. Torroni, A., Schurr, T. G., Cabell, M. F., Brown, M. D., Neel, J. V., Larsen, M., Smith, D. G., Vullo, C. M., and Wallacw, D. C., Asian affinities and continental radiation of the four founding Native American mtDNAs. Am. J. Hum. Genet., 53, 563-590 (1993)
  20. Vigilant, M., Stoneking, M., Harpending, H., Hawkes, K., and Wilson, A. C., African populations and the evolution of human mitochondrial DNA. Science, 253, 1503-1507 (1991) https://doi.org/10.1126/science.1840702
  21. Wallace, D. C., Brown, M. D., and Lott, M. T., Mitochondrial DNA variation in human evolution and disease. Gene, 238, 211-230 (1999) https://doi.org/10.1016/S0378-1119(99)00295-4
  22. Ward, R. H., Frazier, B. L., Dew-Jager, K., and Paabo, S., Extensive mitochondrial diversity within a single Amerindian tribe. Proc. Natl. Acad. Sci. U.S.A., 88, 8720-8724 (1991)
  23. Wilson, A. C., The molecular basis of evolution. Sci. Am., 253, 164-173 (1985) https://doi.org/10.1038/scientificamerican1085-164
  24. Yoshii, T., Takada, E., Akiyama, K., and Ishiyama, I., Sequence polymorphism of mitochondrial DNA and its forensic application. Nippon. Hoigaku. Zassahi., 49, 242-250 (1995)