title: [Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian].
abstract: OBJECTIVE
  To study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.
  
  
  METHODS
  Peripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.
  
  
  RESULTS
  Twenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.
  
  
  CONCLUSIONS
  There is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.
authors: Fujian Provincial Maternity and Child Health Care Hospital, Fujian Neonatal Screening Center, Fuzhou, Fujian 350001, P. R. China. hqchen_996@qq.com.
authors: Wenbin
authors: W
authors: Zhu
authors: Hanqiang
authors: H
authors: Chen
authors: Yueqing
authors: Y
authors: Su
authors: Hong
authors: H
authors: Zhao
authors: Jing
authors: J
authors: Wang
authors: Jinfu
authors: J
authors: Zhou
authors: Yao
authors: Y
authors: Chen
authors: Yinglin
authors: Y
authors: Zen
authors: Feng
authors: F
authors: Lin
authors: Honghua
authors: H
authors: Zhang
mesh_terms: D000293:Adolescent; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase