title: [Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
abstract: OBJECTIVE
  To characterize the mutations of the phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria in Gansu province.
  
  
  METHODS
  Mutations of the PAH gene were detected in exons 3, 5, 6, 7, 11 and 12 with flaking introns of PAH gene by PCR and DNA sequencing.
  
  
  RESULTS
  Mutations were identified in 45/58 alleles (detection rate: 96.4%), in total of 18 variants. Among them IVS12+5G>C was a novel mutation. The most frequent mutations were R243Q (22.7%), V399V (12.1%), EX6-96A>G (5.2%), R413P (5.2%) and IVS4-1G>A (5.2%), followed by Y356X (3.4%), R111X (3.4%) and INS7+2T>A (3.4%).
  
  
  CONCLUSIONS
  The mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Gansu province were similar to that in other areas of China, with obvious difference in mutation rate of some mutations.
authors.affiliation: Department of Medical Genetics, Chinese Academy of Medical Sciences & Peking Union Medical College, WHO Collaborating Centre for Community Control of Hereditary Diseases, Prenatal Diagnosis Centre, Peking Union Medical College Hospital, Beijing, 100005 P.R. China.
authors.forename: You-sheng
authors.initials: YS
authors.lastname: Yan
authors.forename: Zheng
authors.initials: Z
authors.lastname: Wang
authors.forename: Sheng-ju
authors.initials: SJ
authors.lastname: Hao
authors.forename: Yan
authors.initials: Y
authors.lastname: Meng
authors.forename: Lei
authors.initials: L
authors.lastname: Zheng
authors.forename: Shang-zhi
authors.initials: SZ
authors.lastname: Huang
mesh_terms: D000328:Adult; D001483:Base Sequence; D002681:China; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics
chemical_list: D010651:Phenylalanine Hydroxylase