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Fabry's Disease: Detection of Heterozygotes Using Blastoid Lymphocytes StimuIated by PhytohemaggIutinin
Author(s) -
Sakuraba Hitoshi,
Ohga Kazuhiro,
Suzuki Yoshiyuki
Publication year - 1981
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1981.tb01244.x
Subject(s) - heterozygote advantage , medicine , microbiology and biotechnology , blastoid , lymphocyte , immunology , biochemistry , allele , gene , biology , lymphoma , mantle cell lymphoma
Summary Cultured lymphocytes with phytohemagglutinin (PHA) were used for samples of α‐galactosidase (α‐gal) assay. In control subjects α‐gal activity of cultured lymphocytes with PHA increased compared to that of uncultured or cultured lymphocytes without lectin. While the carrier females of Fabry's disease showed a slight decrease of α‐gal activity in cultured lymphocytes with PHA. Therefore, heterozygotes could be definitely distinguished from controls. Cultured lymphocytes with PHA were thought to be available for the detection of heterozygotes.