title: Prenatal diagnosis of classic phenylketonuria by DNA analysis.
abstract: Prenatal diagnosis of classic phenylketonuria (PKU) was performed in two at-risk families by means of a cloned human phenylalanine hydroxylase gene probe which was used to analyse DNA isolated from cultured amniotic fluid cells. The diagnoses of a PKU fetus in one family and a heterozygous fetus in another family were confirmed after birth. The prenatal diagnosis procedure by DNA analysis can be confidently applied to 90% of caucasian families with previously affected children.
authors.forename: A S
authors.initials: AS
authors.lastname: Lidsky
authors.forename: F
authors.initials: F
authors.lastname: Güttler
authors.forename: S L
authors.initials: SL
authors.lastname: Woo
mesh_terms: D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers; D010649:Phenylalanine; D004247:DNA; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI