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

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 d...

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Bibliographic Details
Published inHuman genetics Vol. 85; no. 3; p. 327
Main Authors Bikker, H, van den Berg, F M, Wolterman, R A, Kleijer, W J, de Vijlder, J J, Bolhuis, P A
Format Journal Article
LanguageEnglish
Published Germany 01.08.1990
Subjects
beta-N-Acetylhexosaminidases - genetics
Chromosome Deletion
Europe
Genetic Testing
Hexosaminidase B
Homozygote
Humans
Polymorphism, Restriction Fragment Length
Restriction Mapping
Sandhoff Disease - genetics
Europe
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Summary: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.
ISSN:0340-6717
DOI:10.1007/BF00206756