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Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non‐specific ALP gene in prenatal diagnosis of severe hypophosphatasia
Author(s) -
Mornet Etienne,
Muller Françoise,
Ngo Sandrine,
Taillandier Agnès,
SimonBouy Brigitte,
Maire Irène,
Oury JeanFrançois
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199908)19:8<755::aid-pd629>3.0.co;2-#
Subject(s) - hypophosphatasia , alkaline phosphatase , prenatal diagnosis , phosphoric monoester hydrolases , phosphatase , medicine , endocrinology , chemistry , pregnancy , biology , fetus , enzyme , genetics , biochemistry
Prenatal diagnosis of severe hypophosphatasia by mutation analysis of the tissue non‐specific alkaline phosphatase (TNSALP) gene is reliable and mostly informative. However, alkaline phosphatase (ALP) assay of CVS may be a useful complementary and independent method, especially when a mutation is unidentified and DNA from the index case is unavailable, rendering impossible the use of DNA polymorphisms as genetic markers of the disease. We report here mutation analysis of the TNSALP gene and ALP assay in nine cases of prenatal diagnosis of severe hypophosphatasia. The results showed a good correlation between ALP assay and DNA analysis in all but one case, which suggested that in at least some cases low values of ALP may correspond to affected fetuses as well as to heterozygotes. Copyright © 1999 John Wiley & Sons, Ltd.