N-Acetyl-beta-hexosaminidase isoenzymes of amniotic fluid and maternal serum. Their relevance to prenatal diagnosis of the GM2 gangliosidoses. |
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Authors: | M Potier G Boire L Dallaire S B Melancon |
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Institution: | Section de Génétique Médicale, Centre de Recherche Pédiatrique. Hôpital Sainte-Justine and Département de Pédiatrie, Université de Montréal, Montréal, Québec H3T 1C5 Canada |
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Abstract: | The isoenzymes of N-acetyl-beta-hexosaminidase were quantitated in 30 amniotic fluid and 13 maternal serum samples collected between 11 and 40 weeks of gestation using DEAE-Sephadex A-25 chromatography. Isoenzymes A and B consitituted the major components of most amniotic fluids but seven samples characterized by high N-acetyl-beta-hexosaminidase activities contained high proportion of an isoenzyme apparently identical to isoenzyme P of maternal serum. This passage of maternal serum N-acetyl-beta-hexosaminidase into the amniotic cavity could lead to false negative diagnosis of type B and type O GM2 gangliosidoses if the diagnosis rely solely upon isoenzyme analysis in amniotic fluid. However, the release of maternal enzyme into amniotic fluid seems to be restricted to the third trimester of gestation and should not interfere with prenatal diagnosis of the GM2 gangliosidoses ususally performed at an earlier stage of gestation. |
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Keywords: | Correspondence should be addressed to: Dr Michel Potier Section de Génétique Médicale Hôpital Sainte-Justine 3175 Chemin Sainte-Catherine Montréal H3T 1C5 Québec Canada |
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