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2004 | 51 | 4 | 883-895
Article title

Comparison between the Polish population and European populations on the basis of mitochondrial morphs and haplogroups.

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Polymorphisms in mitochondrial DNA (mtDNA) were analyzed in 152 samples from the Polish population using restriction enzymes AvaI, BamHI, HaeII, HpaI and PstI. Additionally, each sample was classified into the appropriate haplogroup. When required, appropriate fragments were sequenced to establish the exact polymorphic sites. We found one new morph for PstI and six new morphs for AvaII. Some detected morphs have previously been described as population specific morphs in different regions of the world. All polymorphisms were classified into 31 different haplotypes. 21 of them were detected in single individuals. The Polish population was compared with other populations from different regions. Moreover, we have obtained evidence for mutation hot spots in the mtDNA coding region. Our results indicate that AvaII morph and haplogroup composition of the Polish population is similar to other European populations and has a distribution typical for this part of the world. However, statistically significant differences in haplogroup composition were found between the Polish population and Italian and Finnish populations.
Physical description
  • Department of Genetics, University of Warsaw, Warszawa, Poland
  • Department of Genetics, University of Warsaw, Warszawa, Poland
  • Department of Genetics, University of Warsaw, Warszawa, Poland
  • Department of Genetics, University of Warsaw, Warszawa, Poland
  • Postgraduate School of Molecular Medicine, Warszawa, Poland
  • Institute of Biochemistry and Biophysics, Warszawa, Poland
  • Anderson SA, Bankier T, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Stadeni R, Young IG. (1981) Sequence and organization of the human mitochondrial genome. Nature.; 290: 457-65.
  • Bonne-Tamir B, Johnson MJ, Natali A, Wallace DC, Cavalli-Sforza LL. (1986) Human mitochondrial DNA types in two Israeli populations - a comparative study at the DNA level. Am J Hum Genet.; 38: 341-51.
  • Brega A, Mura G, Caccio S, Semino O, Brdicka R, Santachiara-Benerecetti AS. (1994) MtDNA polymorphisms in a sample of Czechoslovaks and in two groups of Italians. Gene Geogr.; 8: 45-54.
  • Brega A, Scozzari R, Maccioni L et al. (1986) Mitochondrial DNA polymorphisms in Italy. I. Population data from Sardinia and Rome. Ann Hum Genet.; 50: 327-38.
  • Cann RL, Brown WM, Wilson AC. (1984) Polymorphic sites and the mechanism of evolution in human mitochondrial DNA. Genetics.; 106: 479-99.
  • de Benedictis G, Rose G, Caccio S, Picardi P, Quagliariello C. (1989a) Mitochondrial DNA polymorphism in Calabria (southern Italy). Gene Geogr.; 3: 33-40.
  • de Benedictis G, Rose G, Passarino G, Quagliariello C. (1989b) Restriction fragment length polymorphism of human mitochondrial DNA in a sample population from Apulia (southern Italy). Ann Hum Genet.; 53: 311-8.
  • de Benedictis G, Rose G, Carrieri G, De Luca M, Falcone E, Passarino G, Bonafe M, Monti D, Baggio G, Bertolini S, Mari D, Mattace R, Franceschi C. (1999) Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J.; 13: 1532-6.
  • Finnilä S, Lehtonen MS, Majamaa K. (2001) Phylogenetic network for European mtDNA. Am J Hum Genet.; 68: 1475-84.
  • Harihara S, Saitou N, Hirai M et al. (1988) Mitochondrial DNA polymorphism among five Asian populations. Am J Hum Genet.; 43: 134-43.
  • Herrnstadt C, Elson JL, Fahy E et al. (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: 1152-71.
  • Horai S, Matsunaga E. (1986) Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five base pair recognition. Hum Genet.; 72: 105-17.
  • Ingman M, Kaessmann H, Paabo S, Gyllensten U. (2000) Mitochondrial genome variation and the origin of modern humans. Nature.; 408: 708-13.
  • Johnson MJ, Wallace DC, Ferris SD, Rattazzi MC, Cavalli-Sforza LL. (1983) Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol.; 19: 255-71.
  • Malyarchuk BA, Grzybowski T, Derenko MV, Czarny J, Wozniaki M, Miscicka-Sliwka D. (2002) Mitochondrial DNA variability in Poles and Russians. Ann Hum Genet.; 66: 261-83.
  • Marzuki S, Noer AS, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E. (1991) Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet.; 88: 139-45.
  • Niemi AK, Hervonen A, Hurme M, Karhunen PJ, Jylhai M, Majamaa K. (2003) Mitochondrial DNA polymorphisms associated with longevity in a Finnish population. Hum Genet.; 112: 29-33.
  • Paabo S. (1996) Mutational hot spots in the mitochondrial microcosm. Am J Hum Genet.; 59: 493-6.
  • Parsons TJ, Muniec DS, Sullivan K, Woodyatt N, Alliston-Greiner R, Wilson MR, Berry DL, et al. (1997) A high observed substitution rate in the human mitochondrial DNA control region. Nat Genet.; 15: 363-8.
  • Sambrook J, Russell DW. (2001) Molecular Cloning: A Laboratory Manual. (ed. 3) pp 6.4-6.11 Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York.
  • Sartoris S, Varetto O, Migone N, Cappello N, Piazza A, Ferrara GB, Ceppellini R. (1988) Mitochondrial DNA polymorphism in four Sardinian villages. Ann Hum Genet.; 52: 327-40.
  • Scozzari R, Torroni A, Semino O, Sirugo G, Brega A, Santachiara-Benerecetti AS. (1988) Genetic studies on the Senegal population. I. Mitochondrial DNA polymorphisms. Am J Hum Genet.; 43: 534-44.
  • Semino O, Torroni A, Scozzari R, Brega A, Santachiara Benerecetti AS. (1991) Mitochondrial DNA polymorphisms among Hindus: a comparison with the Tharus of Nepal. Ann Hum Genet.; 55: 123-36.
  • Sigurgardóttir S, Agnar H, Gulcher JR, Stefansson K, Donelly P. (2000) The mutation rate in the human mtDNA control region. Am J Hum Genet.; 66: 1599-609.
  • Soodyall H, Jenkins T. (1992) Mitochondrial DNA polymorphisms in Khoisan populations from southern Africa. Ann Hum Genet.; 56: 315-24.
  • Tanaka M, Ozawa T. (1994) Strand asymmetry in human mitochondrial DNA mutations. Genomics.; 22: 327-35.
  • Taylor RW, Taylor GA, Durham SE, Turnbull DM. (2001) The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res.; 29: E74-4.
  • Tikochinski Y, Ritte U, Gross SR, Prager EM, Wilson AC. (1991) mtDNA polymorphism in two communities of Jews. Am J Hum Genet.; 48: 129-36.
  • Torroni A, Huoponen K, Francalacci P. (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics.; 144: 1835-50.
  • Torroni A, Schurr TG, Yang CC et al. (1992) Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations. Genetics.; 130: 153-62.
  • Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontausi ML, Wallace DC. (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics.; 144: 1835-50.
  • Vilkki J, Savontaus ML, Nikoskelainen EK. (1988) Human mitochondrial DNA types in Finland. Hum Genet.; 80: 317-21.
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