Human Genetics

, Volume 95, Issue 3, pp 287–292 | Cite as

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

  • Yuri B. Yurov
  • Anne-Marie Laurent
  • Bertrand Marcais
  • Svetlana G. Vorsanova
  • Gerard Roizes
Original Investigation


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.


Down Syndrome Centromeric Region Marker Chromosome Heterochromatic Region Yeast Artificial Chromosome 
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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Yuri B. Yurov
    • 1
    • 2
  • Anne-Marie Laurent
    • 1
  • Bertrand Marcais
    • 1
  • Svetlana G. Vorsanova
    • 1
    • 3
  • Gerard Roizes
    • 1
  1. 1.INSERM U.249-CNRS UPR 9008Institut de BiologieMontpellierFrance
  2. 2.National Research Center of Mental HealthRAMSMoscowRussia
  3. 3.MH RFInstitute of Pediatrics and Children SurgeryMoscowRussia

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