Abstract
Extract: The specific activities of three disease-related lysosomal enzymes were compared in cultured skin fibroblasts from seven normal women (M), their fetuses (F), and cells cultured from corresponding amniotic fluid cells (A). All samples were obtained in weeks 17–21 of pregnancy. Highly significant differences in the mean specific activities of β-galactosidase (β-Gal), β-D-N-acetylglucosaminidase (Hex), and arylsulfatase A (ARA) are evident in control cells developed from each of these sources. In addition, the pattern of differences in the three cell types was dissimilar for each enzyme. The mean activities in nanomoles of product produced per hour per milligram of soluble cell protein were: β-Gal: F = 248, A = 676, M = 375; Hex: F = 3412, A = 6548, M = 6781; and ARA: F = 143, A = 244, M = 458. The differences in enzyme specific activities between the three cell types studied indicated significant differences in the enzymology of these cells under defined culture conditions. In light of these findings the prerequisites necessary for antenatal diagnosis of inherited metabolic disorders are recommended.
Speculation: If quantitative enzymologic data from cultured amniotic fluid cells are to be used for the antenatal diagnosis of specific inherited genetic disorders, it is essential that relative specific activities of the enzymes in question be established in cultured cells from each of the pertinent cell types. This is essential if heterozygous fetuses are to be correctly identified in utero and if fetal tissues are to be used to corroborate intrauterine diagnoses based on amniotic cell analysis.
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Kaback, M., Leonard, C. & Parmley, T. Intrauterine Diagnosis: Comparative Enzymology of Cells Cultivated from Maternal Skin, Fetal Skin, and Amniotic Fluid Cells. Pediatr Res 5, 366–371 (1971). https://doi.org/10.1203/00006450-197108000-00005
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DOI: https://doi.org/10.1203/00006450-197108000-00005
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