title: Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.
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.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: J
authors.initials: J
authors.lastname: Shen
authors.forename: H M
authors.initials: HM
authors.lastname: Liu
authors.forename: Y
authors.initials: Y
authors.lastname: Bao
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
mesh_terms: D001483:Base Sequence; D005260:Female; D005784:Gene Amplification; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D005819:Genetic Markers; D006004:Glycogen Debranching Enzyme System