title: [Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients].
abstract: OBJECTIVE
  To obtain the mutation spectrum of exon 12 of the phenylalanine hydroxylase(PAH) gene.
  
  
  METHODS
  The samples from 127 patients with phenylketonuria(PKU) were studied by polymerase chain reaction(PCR)-single strand conformation polymorphism(SSCP)  PCR-denaturing gradient gel electrophoresis(DGGE) and direct DNA sequencing.
  
  
  RESULTS
  Four heterozygous mutations including R413P  S411X  R408W  R408Q in 10 of 127 patients were identified by DNA sequencing. The frequencies of R413P  S411X  R408W  R408Q mutation were 2.76%, 0.39%, 0.39% and 0.39%, respectively. The S411X mutation in Chinese was first reported. Only 2 cases with R413P mutation were detected by SSCP. DGGE analysis showed that 10 cases displayed 3 kinds of abnormal electrophoretic bands. There were no obvious differences in the frequency of R413P mutation between northern and southern Chinese with PKU, and between classical PKU and hyperphenylalaninemia.
  
  
  CONCLUSIONS
  DGGE is more sensitive than SSCP in screening the mutations of exon 12 of the PAH gene. DGGE combined with DNA sequencing can be used to define all the mutations of exon 12 of the PAH gene. These results indicate the similarity in the frequency of R413P mutation between northern and southern patients.
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Shanghai Second Medical University, Shanghai Institute for Pediatric Research, Shanghai, 200092 PR China. wenjuan_qiu @sina.com
authors.forename: Wen-juan
authors.initials: WJ
authors.lastname: Qiu
authors.forename: Ya-fen
authors.initials: YF
authors.lastname: Zhang
authors.forename: Jun
authors.initials: J
authors.lastname: Ye
authors.forename: Lian-shu
authors.initials: LS
authors.lastname: Han
authors.forename: Xue-fan
authors.initials: XF
authors.lastname: Gu
mesh_terms: D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D006801:Humans; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D010651:Phenylalanine Hydroxylase