Human Genetics

, Volume 76, Issue 2, pp 157–164 | Cite as

Application of cloned satellite DNA sequences to molecular-cytogenetic analysis of constitutive heterochromatin heteromorphisms in man

  • Yuri B. Yurov
  • S. P. Mitkevich
  • I. A. Alexandrov
Original Investigations


The cloned alpha-satellite DNA sequences were used to evaluate the specificity and possible variability of repetitive DNA in constitutive heterochromatin of human chromosomes. Five probes with high specificity to individual chromosomes (chromosomes 3, 11, 17, 18, and X) were in situ hybridized to metaphase chromosomes of different individuals. The stable position of alpha-satellite DNA sequences in heterochromatic regions of particular chromosomes was found. Therefore, the chromosome-specific alpha-satellite DNA sequences may be used as molecular markers for heterochromatic regions of certain human chromosomes. The homologous chromosomes of many individuals were characterized by cytologically visible heteromorphisms of hybridization intensity with chromosome-specific alpha-satellite DNA sequences. A special analysis of hybridization between homologues with morphological differences provided the evidence for a high resolution power of the in situ hybridization technique for evaluation of chromosome heteromorphisms. The approaches for detection of heteromorphisms in cases without morphological differences between homologues are discussed. The results obtained indicate that constitutive heterochromatin of human chromosomes has a variable amount of alphasatellite DNA sequences. In situ hybridization of cloned satellite DNA sequences may be used as a new general approach to analysis of chromosome heteromorphisms in man.


Molecular Marker High Specificity Human Chromosome Morphological Difference Variable Amount 
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Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • Yuri B. Yurov
    • 1
  • S. P. Mitkevich
    • 1
  • I. A. Alexandrov
    • 1
  1. 1.All-Union Research Center of Mental HealthAcademy of Medical Sciences of USSRMoscowUSSR

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