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

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.

• Authors: H Bikker, F M van den Berg, R A Wolterman, W J Kleijer, J J de Vijlder, P A Bolhuis
• Journal: Human genetics (Hum Genet) Vol. 85 Issue 3 Pg. 327-9 (Aug 1990) ISSN: 0340-6717 [Print] Germany
• PMID: 1975561 (Publication Type: Journal Article)

Chemical References

• Hexosaminidase B
• beta-N-Acetylhexosaminidases

Topics

• Chromosome Deletion
• Europe
• Genetic Testing
• Hexosaminidase B
• Homozygote
• Humans
• Polymorphism, Restriction Fragment Length
• Restriction Mapping
• Sandhoff Disease (genetics)
• beta-N-Acetylhexosaminidases (genetics)