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4‐methylumbelliferyl α‐N‐acetylglucosaminidase activity for diagnosis of Sanfilippo B disease
Author(s) -
Marsh Jane,
Fensom A. H.
Publication year - 1985
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.1399-0004.1985.tb00217.x
Subject(s) - chorionic villi , amniotic fluid , substrate (aquarium) , enzyme , prenatal diagnosis , second trimester , biochemistry , fetus , chemistry , first trimester , microbiology and biotechnology , biology , pregnancy , medicine , pathology , genetics , ecology
Conditions for assay of a‐JV‐acetylglucosaminidase activity in human cultured fibroblasts, cultured amniotic fluid cells, leucocytes, serum, plasma and chorionic villi were studied using the fluorogenic substrate 4‐methylumbelliferyl‐2‐acetamido‐2‐deoxy‐a‐D‐glucopyranoside. The substrate was found to have advantage both in terms of sensitivity and ease of use over previously‐used colorimetric substrates for assay of the enzyme in these tissues, and for diagnosis of Sanfilippo B disease and identification of carriers. It should have particular application in first trimester prenatal diagnosis using chorionic villus biopsies.