A new silent mutation found in the Chinese PAH locus and its role in the prenatal diagnosis of phenylketonuria.

A silent mutation or sequence polymorphism. A to T substitution at codon 399 in exon 11 of the PAH gene from a Chinese PKU patient, was found by sequence analysis. The frequencies of this new mutation in normal and abnormal (PKU) genes were 0.005 and 0.09, respectively, based on the analyses of 100 normal individuals and 39 PKU patients using DNA amplification with polymerase chain reaction (PCR) and oligonucleotide hybridization methods. This silent mutation can be used as a "genetic marker" for PKU prenatal diagnosis. Recently, a fetus at risk for PKU, who could not be completely predicted by RFLPs linkage analysis, was prenatally diagnosed with this genetic marker.