title: GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.
abstract: A 23-nucleotide tandem duplication (GGACCTTGAAAGTACTC-GGGACC) was found within exon 3 of the beta-galactosidase gene in a patient with infantile-form GM1-gangliosidosis, which generated a premature stop codon after translation of 36 amino acids. Homologous sequences at the area of duplication suggested that the mutation resulted from an unequal crossover. A single base substitution 316Trp----Cys was found in the other allele. Family study showed that the duplication was transmitted from his father and the base substitution from his mother.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Oshima
authors.forename: K
authors.initials: K
authors.lastname: Yoshida
authors.forename: A
authors.initials: A
authors.lastname: Ishizaki
authors.forename: M
authors.initials: M
authors.lastname: Shimmoto
authors.forename: Y
authors.initials: Y
authors.lastname: Fukuhara
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D005091:Exons / Q000235:genetics*; D016537:Gangliosidosis, GM1 / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D001616:beta-Galactosidase / Q000235:genetics*
chemical_list: D001616:beta-Galactosidase