title: [Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
abstract: OBJECTIVE
  To investigate the mutations of phenylalanine hydroxylase (PAH) gene in the cases of classical phenylketonuria (PKU).
  
  
  METHODS
  The exons 3-12 of the PAH gene in 32 PKU patients from Inner Mongolia were studied by using PCR-single strand conformation polymorphism technique and DNA direct sequencing.
  
  
  RESULTS
  Fourteen point mutations were identified. The frequencies of mutations were R243Q (12/64), Y356X (6/64), Y204C (5/64), R261Q (2/64), Y161S (2/64), R252Q (1/64), R111X (2/64), D282G (1/64), S303P (1/64), G239D (1/64), R413P (1/64), IVS7nt+2 (2/64), IVS4nt+3 (1/64) and IVS9nt+34 (2/64). Two novel mutations IVS4nt+3 (G>C) and IVS9nt+34 (G>A) were first found. The S303P (T>C) and D282G (A>G) were first documented in Chinese PAH gene.
  
  
  CONCLUSIONS
  This study demonstrated the variety of the mutation type PAH gene of PKU in Inner Mongolia population, and confirmed that R243Q, Y356X, Y204C were the hot spots of PAH gene mutation.
authors.affiliation: Department of Laboratory, First Affiliated Hospital, Inner Mongolia Medical College, Huhhot, Inner Mongolia, 010050 P. R. China. Junli0099@sina.com
authors.forename: Junli
authors.initials: J
authors.lastname: Zhang
authors.forename: Jun
authors.initials: J
authors.lastname: Meng
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Zhai
authors.forename: Gen
authors.initials: G
authors.lastname: Fang
authors.forename: Jiangang
authors.initials: J
authors.lastname: Gao
authors.forename: Min
authors.initials: M
authors.lastname: Shi
authors.forename: Yongxiang
authors.initials: Y
authors.lastname: Wang
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D010651:Phenylalanine Hydroxylase