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Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China

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Abstract

To study the mitochondrial DNA (mtDNA) polymorphisms in a total of 232 individuals from five ethnic populations (Daur, n=45; Ewenki, n=47; Korean, n=48; Mongolian, n=48; Oroqen, n=44) in northern China, we analyzed the control region sequences and typed for a number of characteristic mutations in coding regions (especially the region 14576–16047), by direct sequencing or restriction-fragment-length-polymorphism (RFLP) analysis. With the exception of 14 individuals belonging to the European-specific haplogroups R2, H, J, and T, the mtDNAs considered could be assigned into the East Asian-specific haplogroups described recently. The polymorphisms in cytochrome b sequence were found to be very informative for defining or supporting the haplogroups status of East Asian mtDNAs in addition to the reported regions 10171–10659 and 14055–14590 in our previous study. The haplogroup distribution frequencies varied in the five ethnic populations, but in general they all harbored a large amount of north-prevalent haplogroups, such as D, G, C, and Z, and thus were in agreement with their ethnohistory of northern origin. The two populations (Ewenki and Oroqen) with small population census also show concordant features in their matrilineal genetic structures, with lower genetic diversities observed.

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References

  • Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147

    CAS  PubMed  Google Scholar 

  • Bandelt H-J, Lahermo P, Richards M, Macaulay V (2001) Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med 115:64–69

    Article  CAS  PubMed  Google Scholar 

  • Bandelt H-J, Quintana-Murci L, Salas A, Macaulay V (2002) The fingerprint of phantom mutations in mtDNA data. Am J Hum Genet 71:1150–1160

    Article  CAS  PubMed  Google Scholar 

  • Bandelt H-J, Herrnstadt C, Yao Y-G, Kong Q-P, Kivisild T, Rengo C, Scozzari R, Richards M, Villems R, Macaulay V, Howell N, Torroni A, Zhang Y-P (2003) Identification of Native American founder mtDNAs through the analysis of complete mtDNA sequences: some caveats. Ann Hum Genet (in press)

    Google Scholar 

  • Cooper DN, Nussbaum RL, Michael Krawczak M (2002) Proposed guidelines for papers describing DNA polymorphism-disease associations. Hum Genet 110:207–208

    Google Scholar 

  • Ding Y-C, Wooding S, Harpending H, Chi H-C, Li H-P, Fu Y-X, Pang J-F, Yao Y-G, Xiang YJG, Moyzis R, Zhang Y-P (2000) Population structure and history in East Asia. Proc Natl Acad Sci USA 97:14003–14006

    Article  CAS  PubMed  Google Scholar 

  • Du R, Yip VF (1993) Ethnic groups in China. Science Press, Beijing

  • den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121–124

    PubMed  Google Scholar 

  • Finnilä S, Lehtonen MS, Majamaa K (2001) Phylogenetic network for European mtDNA. Am J Hum Genet 68:1475–1484

    CAS  PubMed  Google Scholar 

  • Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 70:1152–1171; 71:448–449 (erratum)

    Google Scholar 

  • Karafet T, Xu L, Du R, Wang W, Feng S, Wells RS, Redd AJ, Zegura SL, Hammer MF (2001) Paternal population history of east Asia: sources, patterns, and microevolutionary process. Am J Hum Genet 69:615–628

    Article  CAS  PubMed  Google Scholar 

  • Kivisild T, Tolk H-V, Parik J, Wang Y, Papiha SS, Bandelt H-J, Villems R (2002) The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19:1737–1751

    CAS  PubMed  Google Scholar 

  • Kong Q-P, Yao Y-G, Sun C, Bandelt H-J, Zhu C-L, Zhang Y-P (2003) Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet (in press)

  • Lee SD, Lee YS, Lee JB (2002) Polymorphism in the mitochondrial cytochrome B gene in Koreans: an additional marker for individual identification. Int J Legal Med 116:74–78

    PubMed  Google Scholar 

  • Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York

  • Oota H, Kitano T, Jin F, Yuasa I, Wang L, Ueda S, Saitou, Stoneking M (2002) Extreme mtDNA homogeneity in continental Asian populations. Am J Phys Anthropol 118:146–153

    Article  PubMed  Google Scholar 

  • Pakendorf B, Wiebe V, Tarskaia LA, Spitsyn VA, Soodyall H, Rodewald A, Stoneking M (2003) Mitochondrial DNA evidence for admixed origins of central Siberian populations. Am J Phys Anthropol 120:211–224

    Article  PubMed  Google Scholar 

  • Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678–680

    CAS  PubMed  Google Scholar 

  • Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V, Rengo C, Sellitto D, Cruciani F, Kivisild T, Villems R, Thomas M, Rychkov S, Rychkov O, Rychkov Y, Golge M, Dimitrov D, Hill E, Bradley D, Romano V, Cali F, Vona G, Demaine A, Papiha S, Triantaphyllidis C, Stefanescu G, Hatina J, Belledi M, Di Rienzo A, Novelletto A, Oppenheim A, Norby S, Al-Zaheri N, Santachiara-Benerecetti S, Scozari R, Torroni A, Bandelt H-J (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251–1276

    CAS  PubMed  Google Scholar 

  • Rozas J, Rozas R (1999) DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis. Bioinformatics 15:174–175

    Article  CAS  PubMed  Google Scholar 

  • Silva Jr WA, Bonatto SL, Holanda AJ, Ribeiro-Dos-Santos AK, Paixão BM, Goldman GH, Abe-Sandes K, Rodriguez-Delfin L, Barbosa M, Paçó-Larson ML, Petzl-Erler ML, Valente V, Santos SEB, Zago MA (2002) Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America. Am J Hum Genet 71:187–192

    Article  CAS  PubMed  Google Scholar 

  • Tzen C-Y, Wu T-Y, Liu H-F (2001) Sequence polymorphism in the coding region of mitochondrial genome encompassing position 8389–8865. Forensic Sci Int 120:204–209

    Article  CAS  PubMed  Google Scholar 

  • Yao Y-G, Zhang Y-P (2002) Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal. J Hum Genet 47:311–318

    Article  CAS  PubMed  Google Scholar 

  • Yao Y-G, Zhang Y-P (2003) Pitfalls in the analysis of ancient human mtDNA. Chinese Sci Bull 48:826–830

    Article  CAS  Google Scholar 

  • Yao Y-G, Lü X-M, Luo H-R, Li W-H, Zhang Y-P (2000a) Gene admixture in the silk road of China: evidence from mtDNA and melanocortin 1 receptor polymorphism. Genes Genet Syst 75:173–178

    Article  CAS  PubMed  Google Scholar 

  • Yao Y-G, Watkins WS, Zhang Y-P (2000b) Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the Peopling of East and Southeast Asia. Hum Genet 107:504–512

    Article  CAS  PubMed  Google Scholar 

  • Yao Y-G, Yuan Z-G, Zhou Z-D, Geng P-L, Li Q-W, Zhang Y-P (2001) Frequency of the mtDNA 9-bp deletion among Chinese ethnic groups. Prog Nat Sci 11:358–364

    CAS  Google Scholar 

  • Yao Y-G, Kong Q-P, Bandelt H-J, Kivisild T, Zhang Y-P (2002a) Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70:635–651

    Google Scholar 

  • Yao Y-G, Nie L, Harpending H, Fu Y-X, Yuan Z-G, Zhang Y-P (2002b) Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity. Am J Phys Anthropol 118:63–76

    Article  PubMed  Google Scholar 

  • Yao Y-G, Kong Q-P, Man X-Y, Bandelt H-J, Zhang Y-P (2003a) Reconstructing the evolutionary history of China: a caveat about inferences drawn from ancient DNA. Mol Biol Evol 20:214–219

    Article  CAS  PubMed  Google Scholar 

  • Yao Y-G, Macaulay V, Kivisild T, Zhang Y-P, Bandelt H-J (2003b) To trust or not to trust an idiosyncratic mitochondrial data set. Am J Hum Genet 72:1341–1346

    Article  CAS  PubMed  Google Scholar 

  • Yao Y-G, Macaulay V, Kivisild T, Zhang Y-P, Bandelt H-J (2003c) Reply to Silva et al. Am J Hum Genet 72:1348–1349

    Article  CAS  Google Scholar 

  • Yao Y-G, Kong Q-P, Sun C, Zhang Y-P (2003d) Can the occurrence of rare insertion/deletion polymorphisms in human mtDNA be verified from phylogeny? Chinese Sci Bull 48:663–667

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank Shi-Fang Wu for technical assistance and two anonymous reviewers for their critical comments on the manuscript. We also thank Dr. Brigitte Pakendorf for providing us the sequence data. The work was supported by Natural Science Foundation of China (NSFC) and Natural Science Foundation of Yunnan Province.

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Authors and Affiliations

  1. Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, 650223, Kunming, China

    Qing-Peng Kong, Yong-Gang Yao, Chun-Ling Zhu, Malliya Gounder Palanichamy & Ya-Ping Zhang

  2. Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, 650091, Kunming, China

    Qing-Peng Kong & Ya-Ping Zhang

  3. Graduate School of the Chinese Academy of Sciences, 100039, Beijing, China

    Qing-Peng Kong & Yong-Gang Yao

  4. Department of Pathology, Baotou Medical College, 014010, Baotou, Inner Mongolia, China

    Mu Liu, Shu-Ping Shen & Cai Chen

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  1. Qing-Peng Kong
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  2. Yong-Gang Yao
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  3. Mu Liu
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  4. Shu-Ping Shen
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  5. Cai Chen
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  6. Chun-Ling Zhu
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  7. Malliya Gounder Palanichamy
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  8. Ya-Ping Zhang
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Corresponding author

Correspondence to Ya-Ping Zhang.

Electronic database information

Electronic database information

Accession numbers and URLs for the sequence data of mtDNA control region (including HVS-I and HVS-II) and the region 14576–16047 in this article are as follows: GenBank, http://www.ncbi.nlm.nih.gov/web/Genbank (accession numbers: AY243965–AY244330 and AY243877–AY243939).

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Kong, QP., Yao, YG., Liu, M. et al. Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Hum Genet 113, 391–405 (2003). https://doi.org/10.1007/s00439-003-1004-7

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  • DOI: https://doi.org/10.1007/s00439-003-1004-7

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