Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assay |
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| Authors: | H Zhao O P Van Diggelen R Thoomes J Huumans E Young T Mazurczak Dr W J Kleijer |
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| Institution: | 1. Department of Clinical Genetics, University Hospital, Erasmus University, Rotterdam, The Netherlands;2. Department of Pediatrics, Sophia Children' s Hospital Erasmus University, Rotterdam, The Netherlands;3. Department of Clinical Biochemistry, Hospital for Sick Children, Great Ormond Street, London, U.K.;4. Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland |
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| Abstract: | A new fluorogenic substrate, 4 methylumbelliferylβ-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three pregnancies at risk for Morquio type A disease using amniocytes. These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non-affected fetus in one. |
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| Keywords: | Prenatal diagnosis Chorionic villi Morquio diasease type A Mucopolysaccharidosis type IV A Galactose-6-sulphate sulphatase |
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