title: [Molecular genetic analysis of a Japanese family with Fabry disease].
abstract: A Japanese male patient with Fabry disease who had no activity of the lysosomal hydrolase alpha-galactosidase A (alpha-GalA) and female members of his family were analyzed. We cloned a cDNA encoded the mutant alpha-GalA, determined its nucleotide sequence, and found two nucleotide differences between the mutant and the wild-types cDNAs. The one difference, a C-to-T transition at nucleotide number 118, resulted in an amino acid substitution of Pro-40 by Ser. A transient expression assay demonstrated that this missense mutation was the cause of the deficiency of alpha-GalA activity in the patient. Gene analysis of the patient's family by PCR and subsequent sequencing demonstrated that all females were heterozygotes.
authors.forename: M
authors.initials: M
authors.lastname: Ishiura
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004247:DNA; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000209:etiology / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D004247:DNA; D000519:alpha-Galactosidase