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Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis
Author(s) -
Speer A.,
Bollman R.,
Michel A.,
Neumann R,
Bommer Ch.,
Hanke R.,
Riess O.,
Cobet G.,
Coutelle Ch.
Publication year - 1986
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.1970060608
Subject(s) - restriction fragment length polymorphism , genetics , prenatal diagnosis , medicine , polymorphism (computer science) , biology , genotype , pregnancy , fetus , gene
Since the isolation of a recombinant containing a cDNA sequence for human phenylalanine hydroxylase (hPH) (Woo et al. , 1983; Speer et al. , 1986) prenatal diagnosis by linked restriction fragment length polymorphism (RFLPs) has become possible for families in which phenylketonuria (PKU) occurs (Lidsky et al. , 1985a). We describe here the application of a Hind III three‐allele RFLP in a single family, which allowed the prenatal diagnosis of an affected fetus.