Molecular cytogenetics of alpha satellite DNA from chromosome 12: fluorescence in situ hybridization and description of DNA and array length polymorphisms

Cytogenet Cell Genet. 1991;56(3-4):144-8. doi: 10.1159/000133071.


A 340-bp EcoRI fragment of alpha satellite DNA from human chromosome 12 has been isolated and used in molecular cytogenetic and genetic studies. The clone, pSP12-1, detects tandemly repeated 1.4-kb repeat units at the centromeric region of chromosome 12. By fluorescence in situ hybridization, biotinylated pSP12-1 is highly specific for chromosome 12 and has been used to confirm an i(12p) in a case of Pallister-Killian syndrome, both in metaphase spreads and in interphase nuclei. A dominant DNA polymorphism for the centromeric D12Z3 locus is detected with the enzyme TaqI. In addition, a high frequency of D12Z3 array length polymorphisms can be detected using pulsed-field gel electrophoresis. The D12Z3 array has been measured by pulsed-field gel electrophoresis to span approximately 2,250-4,300 kb at the centromeric region of chromosome 12.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Centromere / ultrastructure
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12*
  • DNA Probes
  • DNA, Satellite*
  • Genetic Linkage
  • Humans
  • Karyotyping / methods
  • Nucleic Acid Hybridization
  • Polymorphism, Restriction Fragment Length
  • Repetitive Sequences, Nucleic Acid
  • Restriction Mapping


  • DNA Probes
  • DNA, Satellite