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

Heinz Ulrich G. Weier, Joe W. Gray

Research output: Contribution to journalArticle

43 Scopus citations


A degenerate alpha satellite DNA probe specific for a repeated sequence on human chromosomes 13 and 21 was synthesized using the polymerase chain reaction (PCR). Fluorescence in situ hybridization (FISH) with this probe to normal metaphase spreads revealed strong probe binding to the centromeric regions of human chromosomes 13 and 21 with negligible cross-hybridization with other chromosomes, FISH to normal interphase cell nuclei showed four distinct domains of probe binding. However, hybridization with probe to interphase and metaphase preparations from one apparently normal human male resulted in only three major binding domains. Metaphase chromosome analysis revealed a centromeric deletion on one chromosome 21 that caused greatly reduced probe binding. The results suggest caution in the interpretation of interphase ploidy studies performed with chromosome-specific alphoid DNA probes.

Original languageEnglish (US)
Pages (from-to)81-86
Number of pages6
JournalAnalytical Cellular Pathology
Issue number2
StatePublished - Mar 1 1992



  • Alpha satellite DNA
  • Chromosome aberrations
  • DNA probes
  • Heteromorphism
  • In situ hybridization
  • Ploidy analysis

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cell Biology

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