title: Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
abstract: We have applied non-radioactive polymerase chain reaction (PCR)-single-stranded conformation polymorphism (SSCP) to the detection of gene mutations causing Fabry disease. Nineteen of 22 known mutations were detected as electrophoretic mobility shifts on PCR-SSCP analysis. Then, DNA from newly diagnosed Japanese patients with the classical form of Fabry disease was subjected to PCR-SSCP analysis, and 4 novel mutations (1 small deletion, 1 nonsense mutation and 2 missense mutations) and 1 neutral polymorphism were identified. Furthermore, identification of an asymptomatic heterozygote and a hemizygote with moderate clinical manifestations was successfully achieved by application of this method to a family with the variant form of Fabry disease. PCR-SSCP is useful for the gene diagnosis of etiologically heterogeneous Fabry disease.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Takata
authors.forename: T
authors.initials: T
authors.lastname: Okumiya
authors.forename: H
authors.initials: H
authors.lastname: Hayashibe
authors.forename: M
authors.initials: M
authors.lastname: Shimmoto
authors.forename: R
authors.initials: R
authors.lastname: Kase
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: K
authors.initials: K
authors.lastname: Utsumi
authors.forename: S
authors.initials: S
authors.lastname: Kamei
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D000293:Adolescent; D000328:Adult; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase