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Structural organization and polymorphism of the alpha satellite DNA sequences of chromosomes 13 and 21 as revealed by pulse field gel electrophoresis

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Summary

More than 30 unrelated individuals were analysed by pulse field gel electrophoresis for the alphoid centromeric sequences of chromosomes 13 and 21. These individuals had DNA patterns all different from each other and were most probably heterozygous at both loci. When several nuclear families were analysed in this manner, segregation was shown to be Mendelian, and no recombination event was detected over the 150 meioses scored in this study. Alphoid DNA sequences, therefore, constitute highly polymorphic centromeric markers, which can be used in linkage analysis for loci close to the centromeres of chromosomes 13 and 21.

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References

  • Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey J, Baty B, Kivlin J, Willard H, Waye JS, Greig G, Leinwand L, Nakamura Y, O'Connell P, Leppert M, Lalouel JM, White R, Skolnick M (1987) Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236:1100–1102

    Google Scholar 

  • Bellis M, Pages M, Roizès G (1987a) Electrophorèse de l'ADN en champs pulse. Rev Inst Pasteur Lyon 20:45–55

    Google Scholar 

  • Bellis M, Pages M, Roizès G (1987b) A simple and rapid method for preparing yeast chromosomes for pulse field gel electrophoresis. Nucleic Acids Res 15:6749

    Google Scholar 

  • Choo KH, Vissel B, Brown R, Filby RG, Earle E (1988) Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21:implications for recombination between nonhomologues and Robertsonian translocations. Nucleic Acids Res 16:1273–1284

    Google Scholar 

  • Choo KH, Vissel B, Earle E (1989) Evolution of alpha-satellite DNA on human acrocentric chromosomes. Genomics 5:332–344

    Google Scholar 

  • Chu G, Vollrath D, Davis RW (1986) Separation of large DNA molecules by contour-clamped homogenous electric fields. Science 234:1582–1585

    Google Scholar 

  • Dod B, Mottez E, Desmarais E, Bonhomme F, Roizès G (1989) Concerted evolution of light satellite DNA in the genus Mus implies amplification and homogenization of large blocks of repeats. Mol Biol Evol 6:478–491

    Google Scholar 

  • Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13

    CAS  PubMed  Google Scholar 

  • Goate AM, Owen MJ, James LA, Mullan MJ, Rossor MN, Haynl AR, Farrall M, Lai LYC, Roques P, Williamson R, Hardy JA (1989) Predisposing locus for Alzheimer's disease on chromosome 21. Lancet 352–355

  • Jabs EW, Meyers D, Bias W (1986) Linkage studies of polymorphic repeated DNA sequences in centromeric regions of human chromosomes. Am J Hum Genet 38:297–308

    Google Scholar 

  • Jabs EW, Goble CA, Cutting GR (1989) Macromolecular organisation of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats. Proc Natl Acad Sci USA86:202–206

    Google Scholar 

  • Jeffreys AJ, Wilson V, Thein SL (1985) Hypervariable “minisatellite” regions in human DNA. Nature 314:67–73

    Google Scholar 

  • Jorgensen AL, Bostock CJ, Bak AL (1987a) Homologous subfamilies of human alphoid repetitive DNA on different nucleolus organizing chromosomes. Proc Natl Acad Sci USA 84:1075–1079

    Google Scholar 

  • Jorgensen AL, Jones C, Bostock CJ, Bak AL (1987b) Different subfamilies of alphoid repetitive DNA are present on the human and chimpanzee homologous chromosomes 21 and 22. EMBO J 6:1691–1696

    Google Scholar 

  • Manuelidis L (1978) Complex and simple sequences in human repeated DNAs. Chromosoma 66:1–21

    Google Scholar 

  • Marçais B, Gérard A, Bellis M, Roizès G (1991) TaqI reveals two independent alphoid polymorphisms on human chromosomes 13 and 21. Hum Genet 86:307–310

    Google Scholar 

  • Mitchell AR, Godsen JR, Miller DA (1985) A cloned sequence, p82H, of alphoid repeated DNA family found at the centromeres of all human chromosomes. Chromosoma 92:369–377

    Google Scholar 

  • Schwartz DC, Cantor CR (1984) Separation of yeast chromosomesized DNAs by pulsed field gradient gel electrophoresis. Cell 37:67–75

    Google Scholar 

  • Southern EM, Roizès G (1973) The action of a restriction endonuclease on higher organism DNA. Cold Spring Harb Symp Quant Biol 38:429–433

    Google Scholar 

  • Tyler-Smith C, Brown WRA (1987) Structure of the major block of alphoid satellite DNA on the human Y chromosome. J Mol Biol 195:457–470

    Google Scholar 

  • Tyler-Smith C, Taylor L, Müller U (1988) Structure of a hypervariable tandemly repated DNA sequence on the short arm of the human Y chromosome. J Mol Biol 203:837–848

    Google Scholar 

  • Vitek MP, Devine E, Dutkowski R, Blume A, Mullikin-Kilpatrick D, Miller DL, Brown WT, Wray W (1985) Isolation of specific chromosomes and their DNA. Gene Anal Techn 2:16–21

    Google Scholar 

  • Waye JS, Durfy SJ, Pinkel D, Kenwrick S, Patterson M, Davies KE, Willard HF (1987) Chromosome-specific alpha satellite DNA from human chromosome 1: hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA. Genomics 1:43–51

    Google Scholar 

  • Wevrick R, Willard HF (1989) Long-range organisation of tandem arrays of alpha satellite DNA at the centromeres of human chromosomes: high-frequency array-length polymorphism and meiotic stability. Proc Natl Acad Sci USA 86:9394–9398

    Google Scholar 

  • Willard HF, Waye JS, Skolnick MH, Schwartz CE, Powers VE, England SB (1986) Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps. Proc Natl Acad Sci USA 83:5611–5615

    Google Scholar 

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Marçais, B., Bellis, M., Gérard, A. et al. Structural organization and polymorphism of the alpha satellite DNA sequences of chromosomes 13 and 21 as revealed by pulse field gel electrophoresis. Hum Genet 86, 311–316 (1991). https://doi.org/10.1007/BF00202418

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  • DOI: https://doi.org/10.1007/BF00202418

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