Human Genetics

, Volume 81, Issue 3, pp 287–288

Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

Authors

  • Hennie Bikker
    • Department of Experimental MedicineAcademic Medical Center
  • Frank M. van den Berg
    • Department of PathologyAcademic Medical Center
  • Ruud A. Wolterman
    • Department of Experimental MedicineAcademic Medical Center
  • Jan J. M. de Vijlder
    • Department of Experimental MedicineAcademic Medical Center
  • Piet A. Bolhuis
    • Department of Experimental MedicineAcademic Medical Center
Original Investigations

DOI: 10.1007/BF00279006

Cite this article as:
Bikker, H., van den Berg, F.M., Wolterman, R.A. et al. Hum Genet (1989) 81: 287. doi:10.1007/BF00279006

Summary

Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysis, this deletion was masked by hybridization of bands from the other allele.

Copyright information

© Springer-Verlag 1989