Mutations in patients with hyperphenylalaninemia in Zhejiang, China

The spectrum of phenylalanine hydroxylase (PAH) gene mutations was identified in patients with hyperphenylalaninemia(HPA) in Zhejiang, China. By using PCR amplification and DNA sequencing, 52 independent chromosomes were investigated. A total of 22 different mutations and polymorphisms have been detected, including three novel ones: IVS9nt+43G→T, IVS10nt+39G→ T, IVS10nt+97G→A. The most frequent mutations were R111X, IVS4nt?1G→A, F240S, all representing 5 (9.6%) of the 52 chromosomes and F240S were first reported in the Chinese populations. We also studied the correlations between genotype and phenotype that may enable us to predict the genotype-based biochemical phenotype in newborns with HPA.