title: [Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].
abstract: OBJECTIVE
  To study the characteristics of the phenylalanine hydroxylase gene (PAH) mutations in patients with phenylketonuria (PKU) in Henan province, in order to provide basic information for genetic counseling and prenatal diagnosis.
  
  
  METHODS
  Mutations of the PAH gene were detected in exons 1-13 with flanking introns of PAH gene by PCR and DNA sequencing in 47 families with PKU.
  
  
  RESULTS
  A total of 25 different mutations were detected in 83 out of 94 PAH alleles (88.3%). Among them, E79fX13, H271R and D415Y have not been reported previously. It was the first time that IVS10-14C to G mutation was reported in Chinese PKU population. The mutations p.R243Q, EX6-96A to G, p.Y356X, IVS401G to A, p.R111X, p.V399V and p.R413P, were the prevalent mutations with relative frequencies of 20.5%, 12.0%, 9.6%, 9.6%, 8.4%, 8.4% and 7.2% respectively.
  
  
  CONCLUSIONS
  The mutations of the PAH gene in patients with classical phenylketonuria in Henan province were similar to that in other areas of China. Prenatal gene diagnosis for PKU by PAH gene sequencing is efficient for most PKU families.
authors.affiliation: Prenatal Diagnosis Center, the Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052 P.R. China.
authors.forename: Hong-jun
authors.initials: HJ
authors.lastname: GUO
authors.forename: Zhen-hua
authors.initials: ZH
authors.lastname: ZHAO
authors.forename: Miao
authors.initials: M
authors.lastname: JIANG
authors.forename: Hui-rong
authors.initials: HR
authors.lastname: SHI
authors.forename: Xiang-dong
authors.initials: XD
authors.lastname: KONG
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005817:Genetic Counseling / Q000379:methods; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D010651:Phenylalanine Hydroxylase