Structure and mutation analysis of the glycogen storage disease type 1b gene.
Glycogen storage disease (GSD) 1b is the deficiency of endoplasmic reticulum glucose-6-phosphate (G6P) transport. We here report the structure of the gene encoding a protein likely to be responsible for G6P transport, and its mapping to human chromosome 11q23.3. The gene is composed of nine exons spanning a genomic region of approximately 4 kb. Primers based on the genomic sequence were used in single strand conformation polymorphism (SSCP) analysis and mutations were found in six out of seven GSD 1b patients analysed.
Institute of General Pathology, University of Siena, Italy.
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P
Marcolongo
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Barone
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G
Priori
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B
Pirola
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S
Giglio
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G
Biasucci
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E
Zammarchi
G
G
Parenti
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Burchell
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Benedetti
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Sorrentino
D017920:Antiporters; D001315:Australia; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000097:blood; D017931:DNA Primers; D005091:Exons; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D007438:Introns; D007558:Italy; D009004:Monosaccharide Transport Proteins; D009154:Mutation; D010568:Peru; D010770:Phosphotransferases / Q000235:genetics*; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
D017920:Antiporters; D018388:Codon, Terminator; D017931:DNA Primers; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D004247:DNA; D010770:Phosphotransferases