Prenatal diagnosis of infantile hypophosphatasia.
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 BclI 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.
Kishi
F
F
Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
Matsuura
S
S
Murano
I
I
Akita
A
A
Kajii
T
T
D000469:Alkaline Phosphatase / Q000097:blood / Q000235:genetics; D015139:Blotting, Southern; D015193:Chorionic Villi Sampling; D015342:DNA Probes; D004983:Ethanolamines / Q000652:urine; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011261:Pregnancy Trimester, First
D015342:DNA Probes; D004983:Ethanolamines; C005448:phosphorylethanolamine; D000469:Alkaline Phosphatase