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.
Marcolongo
P
P
Institute of General Pathology, University of Siena, Italy.
Barone
V
V
Priori
G
G
Pirola
B
B
Giglio
S
S
Biasucci
G
G
Zammarchi
E
E
Parenti
G
G
Burchell
A
A
Benedetti
A
A
Sorrentino
V
V
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