Prenatal diagnosis of infantile hypophosphatasia | Zendy

Kishi Fumio | Zendy; Matsuura Shinya | Zendy; Murano Ichiro | Zendy; Akita Ayakazu | Zendy; Kajii Tadashi | Zendy

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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.

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