Literature DB >> 6381285

Regional mapping of the human gene for lysosomal alpha-glucosidase by in situ hybridization.

D J Halley, A Konings, P Hupkes, H Galjaard.   

Abstract

The current approach to the chromosomal localization of genes coding for lysosomal enzymes has been the correlation of enzymatic and karyotypic analyses of human-rodent somatic cell hybrids. The feasibility of regional mapping depends on the availability of human cells with informative chromosomal rearrangements. In this communication we report the first localization of a gene coding for a lysosomal enzyme by in situ hybridization. The application of an acid alpha-glucosidase cDNA probe to normal human chromosomes allowed direct regional mapping of the alpha-glucosidase locus (GAA) to the region q23----q25 of chromosome 17.

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Year:  1984        PMID： 6381285     DOI： 10.1007/bf00291362

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


  12 in total

1.  [Localization of the gene for human acid alpha-glucosidase (alpha-GLUa) on the 17q21 to 17qter by interspecific hybridization (author's transl)].

Authors:  D Weil; N Van Cong; M S Gross; J Frézal
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132

2.  Assignment of the gene for galactokinase to human chromosome 17 and its regional localisation to band q21-22.

Authors:  S M Elsevier; R S Kucherlapati; E A Nichols; R P Creagan; R E Giles; F H Ruddle; K Willecke; J K McDougall
Journal:  Nature       Date:  1974-10-18       Impact factor: 49.962

3.  Proceedings: Regional localization of the human genes for thymidine kinase, lactate dehydrogenase-A, and esterase-A.

Authors:  R Kucherlapati; J K McDougall; F H Ruddle
Journal:  Cytogenet Cell Genet       Date:  1974

4.  Cloning a cDNA for the lysosomal alpha-glucosidase.

Authors:  A Konings; P Hupkes; R Versteeg; G Grosveld; A Reuser; H Galjaard
Journal:  Biochem Biophys Res Commun       Date:  1984-02-29       Impact factor: 3.575

5.  Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.

Authors:  A J Reuser; M Kroos
Journal:  FEBS Lett       Date:  1982-09-20       Impact factor: 4.124

6.  Elucidation of an unbalanced chromosome translocation by gene dosage studies.

Authors:  A Sandison; D M Broadhead; A D Bain
Journal:  Clin Genet       Date:  1982-07       Impact factor: 4.438

7.  Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

Authors:  A Hasilik; E F Neufeld
Journal:  J Biol Chem       Date:  1980-05-25       Impact factor: 5.157

8.  Phenotype stabilisation and integration of transferred material in chromosome-mediated gene transfer.

Authors:  L A Klobutcher; F H Ruddle
Journal:  Nature       Date:  1979-08-23       Impact factor: 49.962

9.  alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

Authors:  H G HERS
Journal:  Biochem J       Date:  1963-01       Impact factor: 3.857

10.  Genetics of type II glycogenosis: assignment of the human gene for acid alpha-glucosidase to chromosome 17.

Authors:  G G D'Ancona; J Wurm; C M Croce
Journal:  Proc Natl Acad Sci U S A       Date:  1979-09       Impact factor: 11.205
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  6 in total

1.  Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

Authors:  F A Wijburg; D S Rosenblatt; G D Vos; J W Oorthuys; L G van't Hek; B J Poorthuis; M K Sanders; R B Schutgens
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

2.  Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization.

Authors:  W L Kuo; R Hirschhorn; M L Huie; K Hirschhorn
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

3.  Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.

Authors:  F Martiniuk; M Mehler; A Pellicer; S Tzall; G La Badie; C Hobart; A Ellenbogen; R Hirschhorn
Journal:  Proc Natl Acad Sci U S A       Date:  1986-12       Impact factor: 11.205

4.  The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22.

Authors:  H J Sips; H A de Wit-Verbeek; J de Wit; A Westerveld; H Galjaard
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Chromosomal localization of the gene for a human thyroid hormone-binding protein.

Authors:  N C Popescu; S Y Cheng; I Pastan
Journal:  Am J Hum Genet       Date:  1988-04       Impact factor: 11.025

6.  Cotransfer of syntenic human genes into mouse cells using isolated metaphase chromosomes or cellular DNA.

Authors:  A J de Jonge; S de Smit; M A Kroos; A J Reuser
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  6 in total

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