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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Veröffentlicht in:	Human genetics 1989-02, Vol.81 (3), p.287-288
Hauptverfasser:	BIKKER, H, VAN DEN BERG, F. M, WOLTERMAN, R. A, DE VIJLDER, J. J. M, BOLHUIS, P. A
Format:	Artikel
Sprache:	eng
Schlagworte:	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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