[Molecular genetics of phenylketonuria in Orientals--linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene].

Abstract excerpt

Phenylketonuria (PKU) is a common metabolic disorder among Chinese, with a prevalence of about 1 in 16,500 births. This frequency is very similar to that among Caucasians. Individual exons of the phenylalanine hydroxylase (PAH) gene with flanking introns were amplified by the polymerase chain reaction and cloned into M13 for sequence analysis. An Arg111-to-Ter111 mutation was identified in exon 3 of the PAH gene...

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