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

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...

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Bibliographic Details
Published in:Human genetics 1989-02, Vol.81 (3), p.287-288
Main Authors: BIKKER, H, VAN DEN BERG, F. M, WOLTERMAN, R. A, DE VIJLDER, J. J. M, BOLHUIS, P. A
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Blotting, Southern
Chromosome Deletion
DNA - genetics
Errors of metabolism
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Metabolic diseases
Restriction Mapping
Sandhoff Disease - genetics
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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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00279006