title: Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.
abstract: Glycogen storage disease type 1a (GSD 1a), an autosomal recessive disease, is caused by the inactivity of glucose-6-phosphatase, the gene of which has been recently cloned. We report on the missense mutation C-->T at nucleotide 326 of the G6Pase gene, causing the change of the Arg codon at position 83 into a Cys codon, as the single mutation detected in six Jewish patients. This finding suggests that this mutation might be prevalent among the Jewish population. A new missense mutation T-->G at nucleotide 576 resulting in V166G was found in an Arab Muslim patient. These families may benefit now from pre- and postnatal diagnosis by analysis of DNA from blood and amniotic fluid or chorionic villus cells rather than liver biopsy. No mutations in the G6Pase gene were detected in two GSD 1b patients.
authors.affiliation: Genetic Institute, Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Parvari
authors.forename: S
authors.initials: S
authors.lastname: Moses
authors.forename: E
authors.initials: E
authors.lastname: Hershkovitz
authors.forename: R
authors.initials: R
authors.lastname: Carmi
authors.forename: N
authors.initials: N
authors.lastname: Bashan
mesh_terms: D018643:Arab World; D001120:Arginine / Q000378:metabolism; D001483:Base Sequence; D003545:Cysteine / Q000378:metabolism; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D007585:Jews; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D001120:Arginine; D005952:Glucose-6-Phosphatase; D003545:Cysteine