title: Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia.
abstract: 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.
authors.affiliation: Centre d'Etudes de Biologie Prénatale-SESEP, Université de Versailles, Versailles, France. etienne.mornet@cytogene.uvsq.fr
authors.forename: E
authors.initials: E
authors.lastname: Mornet
authors.forename: F
authors.initials: F
authors.lastname: Muller
authors.forename: S
authors.initials: S
authors.lastname: Ngo
authors.forename: A
authors.initials: A
authors.lastname: Taillandier
authors.forename: B
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: J F
authors.initials: JF
authors.lastname: Oury
mesh_terms: D000469:Alkaline Phosphatase / Q000032:analysis* / Q000235:genetics*; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011446:Prospective Studies; D012189:Retrospective Studies
chemical_list: D004247:DNA; D000469:Alkaline Phosphatase