Prenatal diagnosis of GM2-gangliosidosis. Immunofluorescence analysis of ganglioside GM2 in cultured amniocytes by confocal laser scanning microscopy.
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.
Sakuraba
H
H
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
Itoh
K
K
Kotani
M
M
Tai
T
T
Yamada
H
H
Kurosawa
K
K
Kuroki
Y
Y
Suzuki
H
H
Utsunomiya
T
T
Inoue
H
H
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
D005678:G(M2) Ganglioside; D001619:beta-N-Acetylhexosaminidases