title: [Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease].
abstract: We identified a structural defect of alpha-galactosidase A (alpha-Gal A) gene in a Japanese patient with Fabry disease. A partial deletion approximately 0.4 kilobase-pairs in size was delineated by restriction endonuclease mapping; whole exon 3 sequence was removed. alpha-Gal A mRNA was deficient in the mRNA preparation from the lymphoblastoid cells derived from the patient, and a faulty transcription resulting in an unstable alpha-Gal A message was suggested in this case. Molecular pedigree analysis was successfully performed in identifying heterozygotes and the ancestry of the mutant allele in this family.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science.
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
authors.forename: D F
authors.initials: DF
authors.lastname: Bishop
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: R J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005696:Galactosidases / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D005696:Galactosidases; D000519:alpha-Galactosidase