Human Genetics

, Volume 85, Issue 2, pp 145–150

Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics

  • A. Jauch
  • C. Daumer
  • P. Lichter
  • J. Murken
  • T. Schroeder-Kurth
  • T. Cremer
Original Investigations

DOI: 10.1007/BF00193186

Cite this article as:
Jauch, A., Daumer, C., Lichter, P. et al. Hum Genet (1990) 85: 145. doi:10.1007/BF00193186

Summary

DNA libraries from sorted human gonosomes were used selectively to stain the X and Y chromosomes in normal and aberrant cultured human cells by chromosomal in situ suppression (CISS-) hybridization. The entire X chromosome was stained in metaphase spreads. Interphase chromosome domains of both the active and inactive X were clearly delineated. CISS-hybridization of the Y chromosome resulted in the specific decoration of the euchromatic part (Ypter-q11), whereas the heterochromatic part (Yq12) remained unlabeled. The stained part of the Y chromosome formed a compact domain in interphase nuclei. This approach was applied to amniotic fluid cells containing a ring chromosome of unknown origin (47,XY; +r). The ring chromosome was not stained by library probes from the gonosomes, thereby suggesting its autosomal origin. The sensitivity of CISS-hybridization was demonstrated by the detection of small translocations and fragments in human lymphocyte metaphase spreads after irradiation with 60Co-gamma-rays. Lymphocyte cultures from two XX-males were investigated by CISS-hybridization with Y-library probes. In both cases, metaphase spreads demonstrated a translocation of Yp-material to the short arm of an X chromosome. The translocated Y-material could also be demonstrated directly in interphase nuclei. CISS-hybridization of autosomes 7 and 13 was used for prenatal diagnosis in a case with a known balanced translocation t(7;13) in the father. The same translocation was observed in amniotic fluid cells from the fetus. Specific staining of the chromosomes involved in such translocations will be particularly important, in the future, in cases that cannot be solved reliably by conventional chromosome banding alone.

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • A. Jauch
    • 1
  • C. Daumer
    • 2
  • P. Lichter
    • 3
  • J. Murken
    • 2
  • T. Schroeder-Kurth
    • 1
  • T. Cremer
    • 1
  1. 1.Institut für Humangenetik der UniversitätHeidelbergFederal Republic of Germany
  2. 2.Abteilung für Pädiatrische Genetik, Kinderpoliklinik der UniversitätMünchenFederal Republic of Germany
  3. 3.Department of Human GeneticsYale University, School of MedicineNew HavenUSA

Personalised recommendations