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

P. Marcolongo;V. Barone;G. Priori;B. Pirola;GIGLIO, SABRINA RITA;G. Biasucci;E. Zammarchi;G. Parenti;A. Burchell;A. Benedetti;V. Sorrentino

1998-01-01

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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.