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Prenatal diagnosis of infantile hypophosphatasia
Author(s) -
Kishi Fumio,
Matsuura Shinya,
Murano Ichiro,
Akita Ayakazu,
Kajii Tadashi
Publication year - 1991
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/pd.1970110505
Subject(s) - hypophosphatasia , chorionic villus sampling , prenatal diagnosis , chorionic villi , fetus , alkaline phosphatase , restriction fragment length polymorphism , pregnancy , heterozygote advantage , gestation , in utero , endocrinology , restriction enzyme , medicine , biology , obstetrics , genetics , enzyme , genotype , biochemistry , gene
Prenatal diagnosis was attempted in a pregnant Japanese woman whose son had died of infantile hypophosphatasia, using chorionic villi sampled at 10 weeks of gestation. Southern blot analysis of restriction fragment length polymorphism was used as a guide, with cDNA for the human liver‐type alkaline phosphatase as a probe, and Bcl I as a restriction enzyme. The fetus was found to be a heterozygote; the pregnancy was allowed to continue; and the baby born was phenotypically normal.