caa a22 4500 467985200 CHVBK 20180323112529.0 cr unu---uuuuu 170328e19900801xx s 000 0 eng 10.1007/BF00206756 doi (NATIONALLICENCE)springer-10.1007/BF00206756 Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human β-hexosaminidase β-chain [Elektronische Daten] [Hennie Bikker, Frank van den Berg, Ruud Wolterman, Wim Kleijer, Jan de Vijlder, Piet Bolhuis] Summary: A 50-kb deletion was demonstrated in the gene encoding for the β-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. Springer-Verlag, 1990 Bikker Hennie Department of Experimental Medicine, Academic Medical Centre, NL-1105, AZ Amsterdam, The Netherlands aut van den Berg Frank Department of Pathology, Academic Medical Centre, NL-1105, AZ Amsterdam, The Netherlands aut Wolterman Ruud Department of Experimental Medicine, Academic Medical Centre, NL-1105, AZ Amsterdam, The Netherlands aut Kleijer Wim Department of Clinical Genetics, Erasmus University, NL-3000, DR Rotterdam, The Netherlands aut de Vijlder Jan Department of Experimental Medicine, Academic Medical Centre, NL-1105, AZ Amsterdam, The Netherlands aut Bolhuis Piet Department of Experimental Medicine, Academic Medical Centre, NL-1105, AZ Amsterdam, The Netherlands aut Human Genetics Springer-Verlag 85/3(1990-08-01), 327-329 0340-6717 85:3<327 1990 85 439 https://doi.org/10.1007/BF00206756 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00206756 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bikker Hennie Department of Experimental Medicine, Academic Medical Centre, NL-1105, AZ Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- van den Berg Frank Department of Pathology, Academic Medical Centre, NL-1105, AZ Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Wolterman Ruud Department of Experimental Medicine, Academic Medical Centre, NL-1105, AZ Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Kleijer Wim Department of Clinical Genetics, Erasmus University, NL-3000, DR Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- de Vijlder Jan Department of Experimental Medicine, Academic Medical Centre, NL-1105, AZ Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Bolhuis Piet Department of Experimental Medicine, Academic Medical Centre, NL-1105, AZ Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/3(1990-08-01), 327-329 0340-6717 85:3<327 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer