Forensic Science International
Volume 158, Issue 2 , Pages 125-130 , 10 May 2006

Forensic genetic analysis of mitochondrial DNA hypervariable region I/II sequences: An expanded Korean population database

  • Han Jun Jin

      Affiliations

    • Department of Biological Sciences, Dankook University, San 29, Anseo-dong, Cheonan, Choong-nam 330-714, Republic of Korea
  • ,
  • Kyoung Don Kwak

      Affiliations

    • Department of Biological Sciences, Dankook University, San 29, Anseo-dong, Cheonan, Choong-nam 330-714, Republic of Korea
  • ,
  • Seung Bum Hong

      Affiliations

    • Department of Biological Sciences, Dankook University, San 29, Anseo-dong, Cheonan, Choong-nam 330-714, Republic of Korea
  • ,
  • Dong Jik Shin

      Affiliations

    • Research Institute of Molecular Genetics, Catholic Research Institute of Medical Sciences, Seoul 137-040, Republic of Korea
  • ,
  • Myun Soo Han

      Affiliations

    • DNA Analysis Section, National Institute of Scientific Investigation, Seoul 158-097, Republic of Korea
  • ,
  • Chris Tyler-Smith

      Affiliations

    • The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
  • ,
  • Wook Kim

      Affiliations

    • Department of Biological Sciences, Dankook University, San 29, Anseo-dong, Cheonan, Choong-nam 330-714, Republic of Korea
    • Corresponding Author InformationCorresponding author. Tel.: +82 41 550 3441; fax: +82 41 550 3441.

Received 11 January 2005 ,Revised 25 March 2005 ,Accepted 28 March 2005.

References 

  1. Brown WM, George M, Wilson AC. Rapid evolution of animal mitochondrial DNA. Proc. Natl. Acad. Sci. U.S.A. 1979;76:1967–1971
  2. Giles RE, Blanc H, Cann HM, Wallace DC. Maternal inheritance of human mitochondrial DNA. Proc. Natl. Acad. Sci. U.S.A. 1980;77:6715–6719
  3. Olivo PD, Van de Walle MJ, Laipis PJ, Hauswirth WW. Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop. Nature. 1983;306:400–402
  4. Robin ED, Wong R. Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells. J. Cell Physiol. 1988;136:507–513
  5. Vigilant L, Pennington R, Harpending H, Kocher TD, Wilson AC. Mitochondrial DNA sequences in single hairs from a southern African population. Proc. Natl. Acad. Sci. U.S.A. 1989;86:9350–9354
  6. Carracedo A, Bar W, Lincoln P, Mayr W, Morling N, Olaisen B, et al. DNA commission of the international society for forensic genetics: guidelines for mitochondrial DNA typing. Forensic Sci. Int. 2000;110:79–85
  7. Yao Y-G, Bravi CM, Bandelt H-J. A call for mtDNA data quality control in forensic science. Forensic. Sci. Int. 2004;141:1–6
  8. Budowle B, Allard MW, Wilson MR. Critique of interpretation of high levels of heteroplasmy in the human mitochondrial DNA hypervariable region I from hair. Forensic Sci. Int. 2002;126:30–33
  9. Bandelt H-J, Lahermo P, Richards M, Macaulay V. Detecting errors in mtDNA data by phylogenetic analysis. Int. J. Legal Med. 2001;115:64–69
  10. Bandelt H-J, Quintana-Murci L, Salas A, Macaulay V. The fingerprint of phantom mutations in mitochondrial DNA data. Am. J. Hum. Genet. 2002;71:1150–1160
  11. Bandelt H-J, Salas A, Lutz-Bonengel S. Artificial recombination in forensic mtDNA population databases. Int. J. Legal Med. 2004;118:267–273
  12. Forster P. To err is human. Ann. Hum. Genet. 2003;67:2–4
  13. Allen M, Engstrom AS, Meyers S, Handt O, Saldeen T, von Haeseler A, et al. Mitochondrial DNA sequencing of shed hairs and saliva on robbery caps: sensitivity and matching probabilities. J. Forensic Sci. 1998;43:453–464
  14. Pfeiffer H, Forster P, Ortmann C, Brinkmann B. The results of an mtDNA study of 1,200 inhabitants of a German village in comparison to other Caucasian databases and its relevance for forensic casework. Int. J. Legal Med. 2001;114:169–172
  15. Imaizumi K, Parsons TJ, Yoshino M, Holland MM. A new database of mitochondrial DNA hypervariable regions I and II sequences from 162 Japanese individuals. Int. J. Legal Med. 2002;116:68–73
  16. Piercy R, Sullivan KM, Benson N, Gill P. The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int. J. Legal Med. 1993;106:85–90
  17. Lutz S, Weisser HJ, Heizmann J, Pollak S. Location and frequency of polymorphic positions in the mtDNA control region of individuals from Germany. Int. J. Legal Med. 1998;111:67–77
  18. Rousselet F, Mangin P. Mitochondrial DNA polymorphisms: a study of 50 French Caucasian individuals and application to forensic casework. Int. J. Legal Med. 1998;111:292–298
  19. Budowle B, Wilson MR, DiZinno JA, Stauffer C, Fasano MA, Holland MM, et al. Mitochondrial DNA regions HVI and HVII population data. Forensic Sci. Int. 1999;103:23–35
  20. Lee SD, Shin CH, Kim KB, Lee YS, Lee JB. Sequence variation of mitochondrial DNA control region in Koreans. Forensic Sci. Int. 1997;87:99–116
  21. Snäll N, Savontaus ML, Kares S, Lee MS, Cho EK, Rinne JO, et al. A rare mitochondrial DNA haplotype observed in Koreans. Hum. Biol. 2002;74:253–262
  22. Allard MW, Wilson MR, Monson KL, Budowle B. Control region sequences for East Asian individuals in the Scientific Working Group on DNA Analysis Methods forensic mtDNA data set. Legal Med. 2004;6:11–24
  23. Lee SD, Lee YS, Lee JB. Polymorphism in the mitochondrial cytochrome B gene in Koreans: an additional marker for individual identification. Int. J. Legal Med. 2002;116:74–78
  24. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual. second ed.. New York: Cold Spring Harbor Laboratory Press; 1989;
  25. Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, et al. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum. Mol. Genet. 1993;2:159–163
  26. Kong Q-P, Yao Y-G, Liu M, Shen S-P, Chen C, Zhu C-L, et al. Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Hum. Genet. 2003;113:391–405
  27. Yao Y-G, Kong Q-P, Bandelt H-J, Kivisild T, Zhang Y-P. Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am. J. Hum. Genet. 2002;70:635–651
  28. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 1999;23:147
  29. Yao Y-G, Kong Q-P, Wang C-Y, Zhu C-L, Zhang Y-P. Different matrilineal contributions to genetic structure of ethnic groups in the silk road region in China. Mol. Biol. Evol. 2004;21:2265–2280
  30. Kivisild T, Tolk HV, Parik J, Wang Y, Papiha SS, Bandelt HJ, et al. The emerging limbs and twigs of the East Asian mtDNA tree. Mol. Biol. Evol. 2002;19:1737–1751
  31. Kong Q-P, Yao Y-G, Sun C, Bandelt H-J, Zhu C-L, Zhang Y-P. Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences. Am. J. Hum. Genet. 2003;73:671–676
  32. Budowle B, Allard MW, Wilson MR, Chakraborty R. Forensics and mitochondrial DNA: applications, debates, and foundations. Annu. Rev. Genomics Hum. Genet. 2003;4:119–141
  33. Han M-S, Hong S-B, Choi S-K, Cho Y-H, Jin H-J, Kwak K-D, et al. Population genetic data on the thirteen CODIS short tandem repeat loci in Koreans. Korean J. Genet. 2002;24:83–87
  34. Bandelt H-J, Salas A, Bravi C. Problems in FBI mtDNA database. Science. 2004;305:1402–1404
  35. Jin H-J, Kwak K-D, Hammer MF, Nakahori Y, Shinka T, Lee J-W, et al. Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans. Hum. Genet. 2003;114:27–35
  36. Kolman CJ, Sambuughin N, Bermingham E. Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders. Genetics. 1996;142:1321–1334
  37. Horai S, Murayama K, Hayasaka K, Matsubayashi S, Hattori Y, Fucharoen G, et al. mtDNA polymorphism in east Asian Populations, with special reference to the peopling of Japan. Am. J. Hum. Genet. 1996;59:579–590
  38. Pfeiffer H, Steighner R, Fisher R, Mornstad H, Yoon CL, Holland MM. Mitochondrial DNA extraction and typing from isolated dentin-experimental evaluation in a Korean population. Int. J. Legal Med. 1998;111:309–313
  39. Torroni A, Sukernik RI, Schurr TG, Starikorskaya YB, Cabell MF, Crawford MH, et al. mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with native Americans. Am. J. Hum. Genet. 1993;53:591–608
  40. Choi JW, Kim W. MtDNA sequence reveals a common origin of the majority of the 9-bp deletion. Korean J. Genet. 2003;25:109–117
  41. Maruyama S, Minaguchi K, Saitou N. Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population. Int. J. Legal Med. 2003;117:218–225
  42. Marchington DR, Hartshorne GM, Barlow D, Poulton J. Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. Am. J. Hum. Genet. 1997;60:408–416
  43. Salas A, Rasmussen EM, Lareu MV, Morling N, Carracedo A. Fluorescent SSCP of overlapping fragments (FSSCP-OF): a highly sensitive method for the screening of mitochondrial DNA variation. Forensic Sci. Int. 2001;124:97–103

PII: S0379-0738(05)00294-X

doi: 10.1016/j.forsciint.2005.03.026

Forensic Science International
Volume 158, Issue 2 , Pages 125-130 , 10 May 2006