Hum Genet. 1990 Aug;85(3):327-9.

Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.

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

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

Abstract

A 50-kb deletion was demonstrated in the gene encoding for the beta-subunit of human hexosaminidase (HEXB), using field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA from patients with Sandhoff disease. We investigated 14 patients from different parts of Europe and found no deletion in 5 patients, 2 patients homozygous for the deletion, and 7 patients with the deletion in one allele. The distribution of the 50-kb deletion was approximately in agreement with the Hardy-Weinberg equilibrium. The deletion was characterized using chromosomal DNA from one of the two homozygous patients. Restriction fragments were hybridized with a 1.6-kb (almost complete) and a 0.4-kb (5') HEXB cDNA clone. It appeared that the deletion started in intron 5, extending in the 5' direction and causing the loss of exon 1-5 and the promoter area of the HEXB gene.

PMID:: 1975561; [PubMed - indexed for MEDLINE]

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Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis. [Hum Genet. 1989]
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