title: Prenatal diagnosis of GM2-gangliosidosis. Immunofluorescence analysis of ganglioside GM2 in cultured amniocytes by confocal laser scanning microscopy.
abstract: A confocal laser scanning microscopic system was used to detect the storage of ganglioside GM2 in Tay-Sachs fibroblasts and amniocytes. The diagnosis of the disease was confirmed by counting immunoreactive cells or by digital imaging analysis. This novel system facilitates the prenatal diagnosis of GM2-gangliosidosis.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: M
authors.initials: M
authors.lastname: Kotani
authors.forename: T
authors.initials: T
authors.lastname: Tai
authors.forename: H
authors.initials: H
authors.lastname: Yamada
authors.forename: K
authors.initials: K
authors.lastname: Kurosawa
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: T
authors.initials: T
authors.lastname: Utsunomiya
authors.forename: H
authors.initials: H
authors.lastname: Inoue
mesh_terms: D000650:Amnion / Q000378:metabolism* / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism; D005455:Fluorescent Antibody Technique; D005678:G(M2) Ganglioside / Q000032:analysis*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007834:Lasers; D008853:Microscopy / Q000379:methods; D011296:Prenatal Diagnosis; D012016:Reference Values; D013661:Tay-Sachs Disease / Q000175:diagnosis*; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism
chemical_list: D005678:G(M2) Ganglioside; D001619:beta-N-Acetylhexosaminidases