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

H. Bikker; F. M. van den Berg; R. A. Wolterman; W. J. Kleijer; J. J. de Vijlder; P. A. Bolhuis

doi:https://doi.org/10.1007/BF00206756

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

H. Bikker, F. M. van den Berg, R. A. Wolterman, W. J. Kleijer, J. J. de Vijlder, P. A. Bolhuis

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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

Original language	English
Pages (from-to)	327-329
Journal	Human genetics
Volume	85
Issue number	3
DOIs	https://doi.org/10.1007/BF00206756
Publication status	Published - 1990

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https://doi.org/10.1007/BF00206756

Cite this

@article{825ca12a5445457db1b119283f0b3170,

title = "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",

author = "H. Bikker and {van den Berg}, {F. M.} and Wolterman, {R. A.} and Kleijer, {W. J.} and {de Vijlder}, {J. J.} and Bolhuis, {P. A.}",

year = "1990",

doi = "https://doi.org/10.1007/BF00206756",

language = "English",

volume = "85",

pages = "327--329",

journal = "Human genetics",

issn = "0340-6717",

publisher = "Springer Verlag",

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TY - JOUR

T1 - Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain

AU - Bikker, H.

AU - van den Berg, F. M.

AU - Wolterman, R. A.

AU - Kleijer, W. J.

AU - de Vijlder, J. J.

AU - Bolhuis, P. A.

PY - 1990

Y1 - 1990

N2 - 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

AB - 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

U2 - https://doi.org/10.1007/BF00206756

DO - https://doi.org/10.1007/BF00206756

M3 - Article

C2 - 1975561

SN - 0340-6717

VL - 85

SP - 327

EP - 329

JO - Human genetics

JF - Human genetics

IS - 3

ER -