Literature DB >> 1975561

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

H Bikker1, F M van den Berg, R A Wolterman, W J Kleijer, J J de Vijlder, P A Bolhuis.   

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.

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Year:  1990        PMID： 1975561     DOI： 10.1007/bf00206756

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 2.  Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase.

Authors:  E F Neufeld
Journal:  J Biol Chem       Date:  1989-07-05       Impact factor: 5.157

3.  Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12.

Authors:  T Nakano; K Suzuki
Journal:  J Biol Chem       Date:  1989-03-25       Impact factor: 5.157

4.  Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.

Authors:  D J Mahuran; K Neote; M H Klavins; A Leung; R A Gravel
Journal:  J Biol Chem       Date:  1988-04-05       Impact factor: 5.157

5.  Localization of the pro-sequence within the total deduced primary structure of human beta-hexosaminidase B.

Authors:  J Stirling; A Leung; R A Gravel; D Mahuran
Journal:  FEBS Lett       Date:  1988-04-11       Impact factor: 4.124

6.  Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase, and pyruvate kinase to the region q22-qter of human chromosome 15.

Authors:  C J Chern; R Kennett; E Engel; W J Mellman; C M Croce
Journal:  Somatic Cell Genet       Date:  1977-11

7.  Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

Authors:  K Neote; B Bapat; A Dumbrille-Ross; C Troxel; S M Schuster; D J Mahuran; R A Gravel
Journal:  Genomics       Date:  1988-11       Impact factor: 5.736

8.  Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

Authors:  B F O'Dowd; M H Klavins; H F Willard; R Gravel; J A Lowden; D J Mahuran
Journal:  J Biol Chem       Date:  1986-09-25       Impact factor: 5.157

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

Authors:  H Bikker; F M van den Berg; R A Wolterman; J J de Vijlder; P A Bolhuis
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132

10.  Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts.

Authors:  D V Quon; R L Proia; A V Fowler; J Bleibaum; E F Neufeld
Journal:  J Biol Chem       Date:  1989-02-25       Impact factor: 5.157
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  2 in total

1.  Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease.

Authors:  P A Bolhuis; H Bikker
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

Authors:  M Gomez-Lira; A Sangalli; M Mottes; C Perusi; P F Pignatti; N Rizzuto; A Salviati
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132
  2 in total

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