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Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy
Author(s) -
Itoh Kohji,
Kotani Masaharu,
Tai Tadashi,
Suzuki Hiroshi,
Utsunomiya Toru,
Inoue Hisako,
Yamada Hideo,
Sakuraba Hitoshi,
Suzuki Yoshiyuki
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03905.x
Subject(s) - confocal laser scanning microscopy , immunofluorescence , confocal , laser microscopy , confocal microscopy , fabry disease , microscopy , heterozygote advantage , pathology , biology , medicine , optics , biophysics , microbiology and biotechnology , physics , antibody , biochemistry , genetics , genotype , disease , gene
Itoh K, Kotani M, Tai T, Suzuki H, Utsunomiya T, Inoue H, Yamada H, Sakuraba H, Suzuki Y. Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy. Clin Genet 1993: 44: 302–306. © Munksgaard, 1993 An immunofluorometric method was developed for the semiquantitative determination of trihexosylceramide in cultured fibroblasts from Fabry disease patients, using a laser scanning confocal imaging system. The accumulated glycolipid was detected as granular inclusions in the cells. Heterozygote identification was achieved both by counting of immunoreactive cells and by measuring the relative fluorescence intensity with a digital imaging system.