Structure and mutation analysis of the glycogen storage disease type 1b gene

P Marcolongo; V Barone; G Priori; B Pirola; S Giglio; G Biasucci; E Zammarchi; G Parenti; A Burchell; A Benedetti; V Sorrentino

doi:10.1016/s0014-5793(98)01129-6

Structure and mutation analysis of the glycogen storage disease type 1b gene

FEBS Lett. 1998 Oct 2;436(2):247-50. doi: 10.1016/s0014-5793(98)01129-6.

Authors

P Marcolongo¹, V Barone, G Priori, B Pirola, S Giglio, G Biasucci, E Zammarchi, G Parenti, A Burchell, A Benedetti, V Sorrentino

Affiliation

¹ Institute of General Pathology, University of Siena, Italy.

PMID: 9781688
DOI: 10.1016/s0014-5793(98)01129-6

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Antiporters
Australia
Chromosome Mapping
Chromosomes, Human, Pair 11*
Codon, Terminator / genetics
DNA / blood
DNA Primers
Exons
Glycogen Storage Disease Type I / genetics*
Humans
Introns
Italy
Monosaccharide Transport Proteins
Mutation*
Peru
Phosphotransferases / genetics*
Point Mutation
Polymorphism, Single-Stranded Conformational
Sequence Deletion

Substances

Antiporters
Codon, Terminator
DNA Primers
Monosaccharide Transport Proteins
SLC37A4 protein, human
glucose 6-phosphate(transporter)
DNA
Phosphotransferases