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Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: Identification of new markers for molecular-cytogenetic application

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Abstract

Fluorescence in situ hybridization (FISH) of chromosome 21 specific yeast artificial chromosome (YAC) clones after Alu-PCR (polymerase chain reaction) amplification has been used to find new region-specific DNA probes for the heterochromatic region of chromosome 21. Six overlapping YAC clones from a pericentromeric contig map (region 21cen-21q11) were analyzed. Four YAC clones were characterized as hybridizing to several chromosomal locations. They are, therefore, either chimeric or shared by different chromosomes. Two of them containing alphoid satellite DNA, are localized at the centromeric regions of chromosomes 13 and 21 (clone 243A11), and on 13cen, 21cen and 1q3 (clone 781G5); the two others are localized at both 21q11 and 13q2 (clone 759D3), and at 18p (clone 770B3). Two YACs were strongly specific for chromosome 21q11 only (clones 124A7 and 881D2). These YACs were used effectively as probes for identifications of chromosome 21 during metaphase and interphase analysis of 12 individuals, including three families with Down syndrome offspring, and 6 amniocyte samples. The location of YAC clones on 21q11 close to the centromeric region allows the application of these clones as molecular probes for the analysis of marker chromosomes with partial deletions of the long arm as well as for pre- and postnatal diagnosis of trisomy 21 when alphoid or more distal region-specific DNA probes are uninformative. Overlapping YAC clones covering human chromosome 21q may be systematically used to detect a set of band-specific DNA probes for molecular-cytogenetic application.

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References

  • Baldini A, Ross M, Nizetic D, Vatcheva R, Lindsly EA, Lehrach H, Simiscalco M (1992) Chromosomal assignment of human YAC clones by fluroescence in situ hybridization: use of single-yeast-colony PCR and multiple labelling. Genomics 14:181–184

    Google Scholar 

  • Bellane-Chantelot C, Lacroix B, Ougen P, Billault A, Beaufils S, Bertrand S, Georges I, Gilbert F, Gros I, Lucotte G, Susini L, Codani J-J, Gesnouin P, Pook S, Vaysseix G, Lu-Kuo J, Ried T, Ward D, Chumakov I, Le Paslier D, Barillot E, Cohen D (1992) Mapping the whole human genome by fingerprinting yeast artificial chromosomes. Cell 70:1059–1068

    Google Scholar 

  • Bellis M, Gérard A, Charlieu JP, Marçais B, Brun ME, Viegas-Péquinot E, Carter DA, Roizès G (1991) Construction and characterization of a partial library of yeast artificial chromosomes from human chromosome 21. In: DNA and cell biology? Vol 10, no. 4. Mary Ann Liebert Inc, pp 301–310

  • Cremer T, Langegent J, Bruckner A, Scholl HP, Hager HD, Devilee P, Pearson P (1986) Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L 1. 84. Hum Genet 74:346–352

    Google Scholar 

  • Crete N, Gosset P, Theophile D, Duterque-Coquillaud M, Blouin JL, Vayssettes C, Sinet PM, Creau-Goldberg N (1993) Mapping the Down syndrome chromosome region. Establishment of YAC contig spanning 1. 2 megabases. Eur Hum Genet 1:51–63

    Google Scholar 

  • Chumakov I, Rigault P, Guillou S, Ougen P, Billaut A, Guasconi G, Gervy P, Le Gall I, Soularue P, Grinas L, Bugueleret L, Bellanne-Chantelot C, Lacroix B, Barillot E, Gesnouin P, Pook S, Vaysseix G, Frelat G, Schmitz A, Sambucy J-L, Bosch A, Estivill X, Weissenbach J, Vignal A, Riethman H, Cox D, Patterson D, Gardiner K, Hattori M, Sakaki Y, Ichikawa H, Ohki M, Le Paslier D, Heiling R, Antonarakis S, Cohen D (1992) Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359:380–387

    Google Scholar 

  • Devilee P, Cremer T, Slagboom J, Bakket E, Scholl H, Hager H, Stevenson A (1986) Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13. 18 and 21. Cytogenet Cell Genet 41:193–201

    Google Scholar 

  • Devilee P, Thierry RF, Kievits T, Kolluri R, Hopman AHN, Willard HF, Pearson PL (1988) Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumor using chromosome-specific repetitive DNA probes. Cancer Res 48:5825–5830

    Google Scholar 

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

    Google Scholar 

  • Klinger K, Landes G, Shook D, Harvey R, Lopez L, Lerner T, Locke P, Lerner T, Osathanondh R, Leverone B, Houseal T, Pavelka K, Dackowski W (1992) Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 51:55–65

    Google Scholar 

  • Kuo W-L, Tenjin H, Segraves R, Pinkel D, Golbus MS, Gray J (1991) Detection of aneuploidy involving chromosomes 13, 18 or 21 by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. Am J Hum Genet 49:112–119

    Google Scholar 

  • Lengauer C, Green ED, Cremer T (1992) Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics 13:826–828

    Google Scholar 

  • Lengauer C, Speicher MR, Popp S, Jauch A, Taniwaki M, Nagaraja R, Riethman HC, Donis-Keller H, D'Urso M, Schlessinger D, Cremer T (1993) Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes. Hum Mol Genet 2:505–512

    Google Scholar 

  • Lichter P, Cremer T (1992) Chromosome analysis by non-isotopic in situ hybridization. In: Rooney DE, Czepulkowsku BH (eds) Human cytogenetics, vol I. Constitutional analysis. IRL, Oxford New York Tokyo, pp 157–192

    Google Scholar 

  • Marcais B, Bellis M, Gerard A, Pages M, Boublik Y, Roizes G (1991) Structural organization and polymorphism of the alpha satellite DNA sequences of chromosome 13 and 21 as revealed by pulse field gel electrophoresis. Hum Genet 86:311–316

    Google Scholar 

  • Moyzis RK, Albright KL, Bartholdi MF, Cram LS, Deaven LL, Hildebrand CE, Joste NE (1987) Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis. Chromosoma 95:375–389

    Google Scholar 

  • Pinkel D, Straume T, Gray JW (1986) Cytogenetic analysis using quantitative, high sensitive, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934–2938

    Google Scholar 

  • Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Grau JV (1988) Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocation of chromosome 4. Porc Natl Acad Sci USA 85:9138–9142

    Google Scholar 

  • Plattner R, Heerema NA, Yurov YB, Palmer CG (1993) Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes. Hum Genet 91:131–140

    Google Scholar 

  • Popp S, Jauch A, Schindler D, Speicher MR, Lengauer C, DonisKeller H, Riethman HC, Cremer T (1993) A strategy for characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosomespecific DNA libraries and YAC clones. Hum Genet 92:527–532

    Google Scholar 

  • Romana SP, Tachdjian G, Druart L, Cohen D, Berger R, Cherif D (1993) A simple method for prenatal diagnosis of trisomy 21 on uncultured amniocytes. Eur J Hum Genet 1:245–251

    Google Scholar 

  • Selleri L, Hermanson GG, Eubanks JH, Evans GA (1991) Chromosomal in situ hybridization using yeast artificial chromosomes. GATA 8:59–66

    Google Scholar 

  • Tagle DA, Collins FS (1992) An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids. Hum Mol Genet 1:121–122

    Google Scholar 

  • Trowell HE, Nagy A, Vissel B, Choo A (1993) Long-range analyses of the centromeric regions of human chromosomes 13, 14 and 21: identification of a narrow domain containing two key centromeric DNA elements. Hum Mol Genet 2:1639–1649

    Google Scholar 

  • Verma RS, Luke S (1992) Variations in alphoid DNA sequences escape detection of aneuploidy at interphase by FISH technique. Genomics 14:113–116

    Google Scholar 

  • Vorsanova SG, Yurov YB, Alexandrov IA, Mitkevich SP, Demidova IA, Tirskaya AB (1986) 18p-syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18specific alphoid DNA sequences. Hum Genet 72:185–187

    Google Scholar 

  • Vorsanova SG, Yurov YB, Kurbatov MB, Kazantzeva LZ (1990) Translocation t(1;17)(q12;25) with a clinical picture like of a proximal deletion 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes. Hum Genet 86:173–174

    Google Scholar 

  • Weier H-UG, Gray JW (1992) A degenerate alpha satellite probe, detecting a centromeric deletion on chromosome 21 in an apparently normal human male, shows limitations of the use of satellite DNA probes for interphase ploidy analysis. Anal Cell Pathol 4:81–86

    Google Scholar 

  • Willard HF, Waye JS (1987) Hierarchical order in chromosomespecific human alpha satellite DNA. Trends Genet 3:192–198

    Article  CAS  Google Scholar 

  • Yurov YB, Mitkevich SP, Alexandrov IA (1987) Application of cloned satellite DNA sequences to molecular-cytogenetic analysis of constitutive heterochromatin in man. Hum Genet 76:157–164

    Google Scholar 

  • Yurov YB, Alexandrov IA, Mitkevich SP (1988) Molecular markers for heterochromatic regions of individual human chromosomes. In: Vastanian ME (ed) Neuronal receptors, endogenous ligands and biochemical approaches. Int Univ Press Madison, Connecticut, USA, pp 105–110

    Google Scholar 

  • Yurov YB, Selivanova HA, Deryagin GV (1991a) Use of cloned alpha satellite DNA probes for the analysis of polymorphic heterochromatic regions of human chromosomes and parental origin of trisomy 21. Gentika (Moskva) 27:1637–1647

    Google Scholar 

  • Yurov YB, Vorsanova SG, Zerova TE, Schmidt A, Passarge E (1991b) Molecular analysis of marker chromosomes derived from chromosomes 21 and 13 by in situ hybridization of chromosome-specific repetitive and single copy DNA probes (D13Z1; D21Z1, D21S1, D21S11, D21S13). Cytogenet Cell Genet 58:2156

    Google Scholar 

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Authors and Affiliations

  1. INSERM U.249-CNRS UPR 9008, Institut de Biologie, Bd Henri IV, 34060, Montpellier, France

    Yuri B. Yurov, Anne-Marie Laurent, Bertrand Marcais, Svetlana G. Vorsanova & Gerard Roizes

  2. National Research Center of Mental Health, RAMS, Zagorodnoe sh., 2, 113152, Moscow, Russia

    Yuri B. Yurov

  3. MH RF, Institute of Pediatrics and Children Surgery, Taldomskaia str., 2, 127412, Moscow, Russia

    Svetlana G. Vorsanova

Authors
  1. Yuri B. Yurov
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  2. Anne-Marie Laurent
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  3. Bertrand Marcais
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  4. Svetlana G. Vorsanova
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  5. Gerard Roizes
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Yurov, Y.B., Laurent, AM., Marcais, B. et al. Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: Identification of new markers for molecular-cytogenetic application. Hum Genet 95, 287–292 (1995). https://doi.org/10.1007/BF00225195

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  • DOI: https://doi.org/10.1007/BF00225195

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