Phenylketonuria mutations in southern Chinese detected by denaturing gradient gel electrophoresis in exon 7 of PAH gene.

Abstract

Phenylketonuria (PKU) is one of the commonest inborn errors of metabolism with a prevalence of 1 in 16 500 newborn Chinese (Chen et al 1989). Several mutations have been reported in the Chinese population, but most patients were northern Chinese. In an effort to investigate the molecular basis of PKU for southern Chinese, we have undertaken a systematic study in exon 7 of the phenylalanine hydroxylase (PAH) gene using denaturing gradient gel electrophoresis (DGGE) as a screening technique.