Human Genetics

, Volume 85, Issue 6, pp 581–586

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

  • T. Ried
  • V. Mahler
  • P. Vogt
  • L. Blonden
  • G. J. B. van Ommen
  • T. Cremer
  • M. Cremer
Original Investigations

DOI: 10.1007/BF00193578

Cite this article as:
Ried, T., Mahler, V., Vogt, P. et al. Hum Genet (1990) 85: 581. doi:10.1007/BF00193578

Summary

A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene can be identified. These deletions preferentially include exon 45, which can be detected by multiplex polymerase chain reaction (PCR) and Southern blot analysis of genomic cosmid clones that map to this critical region. As a new approach for definitive carrier detection, we have performed chromosomal in situ suppression (CISS) hybridization with these cosmid clones in female relatives of four unrelated patients. In normal females, most metaphases showed signals on both×chromosomes, whereas only one×chromosome was labeled in carriers. Our results demonstrate that CISS hybridization can define the carrier status in female relatives of DMD patients exhibiting a deletion in the dystrophin gene.

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • T. Ried
    • 1
  • V. Mahler
    • 1
  • P. Vogt
    • 1
  • L. Blonden
    • 2
  • G. J. B. van Ommen
    • 2
  • T. Cremer
    • 1
  • M. Cremer
    • 1
  1. 1.Institut für Humangenetik und Anthropologie der UniversitätHeidelbergGermany
  2. 2.Department of Human GeneticsSylvius LaboratoriesAL LeidenThe Netherlands