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

Jianjun Shen, Hui Ming Liu, Yong Bao, Yuan Tsong Chen

Research output: Contribution to journalArticle

17 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)34-38
Number of pages5
JournalJournal of medical genetics
Volume34
Issue number1
DOIs
StatePublished - 1997

Keywords

  • Glycogen storage disease type III
  • Human glycogen debranching enzyme
  • Linkage analysis
  • Polymorphism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III'. Together they form a unique fingerprint.

  • Cite this