STRUCTURE AND MUTATION ANALYSIS OF THE GLYCOGEN-STORAGE-DISEASE TYPE IB GENE

Glycogen storage disease (GSD) 1b is the deficiency of endoplasmic ret iculum glucosed-phosphate (G6P) transport. We here report the structur e of the gene encoding a protein likely to be responsible for G6P tran sport, and its mapping to human chromosome 11q23.3, The gene is compos ed of nine exons spanning a genomic region of approximately 4 kb, Prim ers based on the genomic sequence were used in single strand conformat ion polymorphism (SSCP) analysis and mutations mere found in sis out o f seven GSD 1b patients analysed. (C) 1998 Federation of European Bioc hemical Societies.