Literature DB >> 2921040

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

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

Abstract

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.

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Year:  1989        PMID： 2921040     DOI： 10.1007/BF00279006

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


  11 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

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

2.  Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.

Authors:  B F O'Dowd; F Quan; H F Willard; A M Lamhonwah; R G Korneluk; J A Lowden; R A Gravel; D J Mahuran
Journal:  Proc Natl Acad Sci U S A       Date:  1985-02       Impact factor: 11.205

3.  Analysis and isolation of cytomegalovirus DNA by field inversion gel electrophoresis.

Authors:  F M van den Berg; M Jiwa; R Rook; J L Geelen
Journal:  J Gen Virol       Date:  1988-03       Impact factor: 3.891

4.  Separation of chromosomal DNA molecules from yeast by orthogonal-field-alternation gel electrophoresis.

Authors:  G F Carle; M V Olson
Journal:  Nucleic Acids Res       Date:  1984-07-25       Impact factor: 16.971

5.  Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange.

Authors:  P H Yen; E Allen; B Marsh; T Mohandas; N Wang; R T Taggart; L J Shapiro
Journal:  Cell       Date:  1987-05-22       Impact factor: 41.582

6.  Characterization of five partial deletions of the factor VIII gene.

Authors:  H Youssoufian; S E Antonarakis; S Aronis; G Tsiftis; D G Phillips; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1987-06       Impact factor: 11.205

7.  Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Authors:  L M Kunkel; J F Hejtmancik; C T Caskey; A Speer; A P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; M A Pericak-Vance; A D Roses; M W Thompson; P N Ray; R G Worton; K H Fischbeck; P Gallano; M Coulon; C Duros; J Boue; C Junien; J Chelly; G Hamard; M Jeanpierre; M Lambert; J C Kaplan; A Emery; H Dorkins; S McGlade; K E Davies; C Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; M Bobrow; F Benham; E Boswinkel; C Cole; V Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; A Ferlini; C Nobile; G Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; C Searby; R Ionasescu; E Bakker; G J van Ommen; P L Pearson; C R Greenberg; J L Hamerton; K Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; J F Harper; B T Darras; U Francke
Journal:  Nature       Date:  1986 Jul 3-9       Impact factor: 49.962

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.  Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.

Authors:  F Baas; H Bikker; G J van Ommen; J J de Vijlder
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

10.  Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.

Authors:  J T den Dunnen; E Bakker; E G Breteler; P L Pearson; G J van Ommen
Journal:  Nature       Date:  1987 Oct 15-21       Impact factor: 49.962
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  6 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

3.  Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Authors:  K Neote; B McInnes; D J Mahuran; R A Gravel
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

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

Authors:  H Bikker; F M van den Berg; R A Wolterman; W J Kleijer; J J de Vijlder; P A Bolhuis
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

5.  Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.

Authors:  H Aryan; O Aryani; K Banihashemi; T Zaman; M Houshmand
Journal:  Iran J Public Health       Date:  2012-03-31       Impact factor: 1.429

Review 6.  Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.

Authors:  Kristien Peeters; Teodora Chamova; Albena Jordanova
Journal:  Brain       Date:  2014-06-25       Impact factor: 13.501
  6 in total

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