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

Journal Article (Clinical Trial;Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Shen, J; Liu, HM; Bao, Y; Chen, YT

Published Date

  • January 1997

Published In

Volume / Issue

  • 34 / 1

Start / End Page

  • 34 - 38

PubMed ID

  • 9032647

Pubmed Central ID

  • PMC1050844

International Standard Serial Number (ISSN)

  • 0022-2593

Digital Object Identifier (DOI)

  • 10.1136/jmg.34.1.34


  • eng

Conference Location

  • England