title: Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.
abstract: Glycogen storage disease type II (GSD II) is an autosomal recessive inherited disorder due to the deficiency of the enzyme acid alpha-glucosidase, which causes an accumulation of glycogen in lysosomes. The deletion of exon 18 (delta 18) is a frequent mutation associated with a severe phenotype. We analyzed 25 Italian patients, 5 of whom were found to be delta 18 carriers. All these 5 patients came from Catania, a town in Sicily. We report on the analysis of 5 intragenic single-point polymorphic markers in the delta 18 patients and on the subsequent characterization of a delta 18-associated haplotype. The frequency of this haplotype in GSD II patients and normal individuals was 1 and 0.196, respectively (chi(2) = 20.9; p < 0.001). The high frequency of the delta 18 allele in this Italian subpopulation is likely to be due to a founder effect.
authors.affiliation: Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Dagnino
authors.forename: M
authors.initials: M
authors.lastname: Stroppiano
authors.forename: S
authors.initials: S
authors.lastname: Regis
authors.forename: G
authors.initials: G
authors.lastname: Bonuccelli
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
mesh_terms: D002648:Child; D018703:Founder Effect; D005787:Gene Frequency; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007223:Infant; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012802:Sicily; D000520:alpha-Glucosidases / Q000235:genetics
chemical_list: D000520:alpha-Glucosidases