Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis

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.