title: Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.
abstract: A partial deletion involving exon 3 associated with a single base change (A to C) was found in the alpha-galactosidase A gene of a hemizygous male Fabry patient and his mother, a heterozygous proband. This 402-bp deletion was flanked by 6-bp direct repeat sequences, and the intervening portion was found to have unique complementary sequences. These specific structures may have promoted "slipped mispairing" in this family.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Fukuhara
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
authors.forename: A
authors.initials: A
authors.lastname: Oshima
authors.forename: M
authors.initials: M
authors.lastname: Shimmoto
authors.forename: Y
authors.initials: Y
authors.lastname: Nagao
authors.forename: Y
authors.initials: Y
authors.lastname: Nadaoka
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis*; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D005696:Galactosidases / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D004247:DNA; D005696:Galactosidases; D000519:alpha-Galactosidase