Prenatal diagnosis of GM2-gangliosidosis. Immunofluorescence analysis of ganglioside GM2 in cultured amniocytes by confocal laser scanning microscopy

H Sakuraba; K Itoh; M Kotani; T Tai; H Yamada; K Kurosawa; Y Kuroki; H Suzuki; T Utsunomiya; H Inoue

doi:10.1016/0387-7604(93)90023-2

Prenatal diagnosis of GM2-gangliosidosis. Immunofluorescence analysis of ganglioside GM2 in cultured amniocytes by confocal laser scanning microscopy

Brain Dev. 1993 Jul-Aug;15(4):278-82. doi: 10.1016/0387-7604(93)90023-2.

Authors

H Sakuraba¹, K Itoh, M Kotani, T Tai, H Yamada, K Kurosawa, Y Kuroki, H Suzuki, T Utsunomiya, H Inoue, et al.

Affiliation

¹ Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.

PMID: 8250149
DOI: 10.1016/0387-7604(93)90023-2

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amnion / metabolism*
Amnion / pathology
Fibroblasts / metabolism
Fluorescent Antibody Technique
G(M2) Ganglioside / analysis*
Humans
Image Processing, Computer-Assisted
Lasers*
Microscopy / methods
Prenatal Diagnosis*
Reference Values
Tay-Sachs Disease / diagnosis*
beta-N-Acetylhexosaminidases / metabolism

Substances

G(M2) Ganglioside
beta-N-Acetylhexosaminidases