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1: Hum Genet. 1989 Feb;81(3):287-8.Links

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

Bikker H, van den Berg FM, Wolterman RA, de Vijlder JJ, Bolhuis PA.

Department of Experimental Medicine, Academic Medical Center, Amsterdam, The Netherlands.

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.

PMID: 2921040 [PubMed - indexed for MEDLINE]