Literature DB >> 9032647

Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

J Shen1, H M Liu, Y Bao, Y T Chen.   

Abstract

Glycogen storage disease type III (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. We identified three polymorphic markers in the GDE gene using single strand conformation polymorphism (SSCP) analysis and DNA sequencing. They were -10G/A in the 5' non-translated region of exon 3,2001 + 8C/T in intron 16, and 3199C/T (P1067S) in exon 25. Two polymorphic markers (-10G/A and 2001 + 8C/T) were highly informative in both controls and GSD-III patients with heterozygosity values of 0.50 and 0.46, respectively. The third marker (3199C/T) had a heterozygosity value of 0.26. Restriction analysis of the PCR amplified genomic DNA products in two GSD-III families showed for the first time the potential use of these markers for carrier detection and prenatal diagnosis in this disease.

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Year:  1997        PMID： 9032647      PMCID： PMC1050844          DOI： 10.1136/jmg.34.1.34

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Definitive prenatal diagnosis for type III glycogen storage disease.

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Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

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Journal:  FEBS Lett       Date:  1975-10-15       Impact factor: 4.124

3.  First trimester prenatal diagnosis of glycogen storage disease type III.

Authors:  I Maire; G Mandon; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Preparation and properties of the glycogen-debranching enzyme from rabbit liver.

Authors:  R B Gordon; D H Brown; B I Brown
Journal:  Biochim Biophys Acta       Date:  1972-11-10

5.  The subgroups of type 3 glycogenosis.

Authors:  F Van Hoof; H G Hers
Journal:  Eur J Biochem       Date:  1967-10

6.  RFLPs for linkage analysis in families with glycogen storage disease type III.

Authors:  A Mishori-Dery; N Bashan; S Moses; E Hershkovitz; Y Bao; Y T Chen; R Parvari
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

7.  Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

Authors:  J Shen; Y Bao; H M Liu; P Lee; J V Leonard; Y T Chen
Journal:  J Clin Invest       Date:  1996-07-15       Impact factor: 14.808

8.  Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.

Authors:  J H Ding; T de Barsy; B I Brown; R A Coleman; Y T Chen
Journal:  J Pediatr       Date:  1990-01       Impact factor: 4.406

9.  Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III.

Authors:  O P van Diggelen; H C Janse; G P Smit
Journal:  Clin Chim Acta       Date:  1985-07-15       Impact factor: 3.786

10.  Assignment of the human glycogen debrancher gene to chromosome 1p21.

Authors:  T L Yang-Feng; K Zheng; J Yu; B Z Yang; Y T Chen; F T Kao
Journal:  Genomics       Date:  1992-08       Impact factor: 5.736
  10 in total
  5 in total

1.  Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.

Authors:  T Fukuda; H Sugie; M Ito
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

2.  Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Authors:  Yoriko Endo; Asako Horinishi; Matthias Vorgerd; Yoshiko Aoyama; Tetsu Ebara; Toshio Murase; Masato Odawara; Teodor Podskarbi; Yoon S Shin; Minoru Okubo
Journal:  J Hum Genet       Date:  2006-09-19       Impact factor: 3.172

3.  Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

Authors:  R Parvari; J Shen; E Hershkovitz; Y T Chen; S W Moses
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

4.  Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.

Authors:  Yoriko Endo; Ekram Fateen; Yoshiko Aoyama; Asako Horinishi; Tetsu Ebara; Toshio Murase; Yoon S Shin; Minoru Okubo
Journal:  J Hum Genet       Date:  2005-09-28       Impact factor: 3.172

Review 5.  Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Authors:  Erin Demo; Donald Frush; Marcia Gottfried; John Koepke; Anne Boney; Deeksha Bali; Y T Chen; Priya S Kishnani
Journal:  J Hepatol       Date:  2006-11-09       Impact factor: 25.083
  5 in total

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