title: [Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
abstract: OBJECTIVE
  To investigate the feature of phenylalanine hydroxylase (PAH) gene mutations and provide guidance for genetic and prenatal diagnosis of patients with phenylketonuria from Shaanxi.
  
  
  METHODS
  For 55 patients whose blood Phe concentration was over 2.0 mg/dL, potential mutations in 13 exons and flanking sequences of the PAH gene were detected by PCR and DNA sequencing.
  
  
  RESULTS
  A total of 98 mutations were detected in 110 PAH alleles, with the detection rate being 89.10%. Nine mutations have been identified in exon 7, which accounted for 33.67% of all. Exon 12 (14.29%) and exon 3 (12.24%) have followed. Thirty eight mutations, locating in exon2-exon12 and the flanking sequence, were detected in the 55 PKU patients. p.R243Q (24.49%) was the commonest mutation, whilstp.A47E, p.I65S and p.A259T were first discovered in China. After querying international databases including PAHdb and HGMD, the p.C334X was verified as the novel PAH gene mutation.
  
  
  CONCLUSIONS
  The mutation spectrum of the PAH gene in Shaanxi has been identified. And a novel mutation has been identified. This may facilitate the diagnosis of PKU in the future.
authors: Prenatal Diagnosis Center, Shaanxi Maternal and Child Health, Xi'an, Shaanxi 710003, P.R.China. qiangrongshx@126.com.
authors: Rong
authors: R
authors: Qiang
authors: Wuzhong
authors: W
authors: Yu
authors: Na
authors: N
authors: Cai
authors: Xiaobin
authors: X
authors: Wang
authors: Cuiyun
authors: C
authors: Qin
authors: Liping
authors: L
authors: Zhang
authors: Xiaoping
authors: X
authors: Ma
authors: Lin
authors: L
authors: Wang
authors: Xuanxing
authors: X
authors: Shi
authors: Hui
authors: H
authors: Liu
authors: Xu
authors: X
authors: Li
authors: Xiang
authors: X
authors: Wang
authors: Jiang
authors: J
authors: He
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000097:blood / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase