title: [Screening for mutations in the PAH gene in Chinese: a new splice and a novel polymorphic mutation].
abstract: OBJECTIVE
  to screening for novel mutations in the phenylalanine hydroxylase (PAH) genes in Chines as to investigate the molecular basis of phenylketonuria and to raise its diagnosis rate.
  
  
  METHODS
  We applied the polymorase chain reaction (PCR) on amplified DNA fragment harboring exon 4 of the PAH gene. For novel mutations detected, the amplified fragments were sequenced by using ds-DNA cycle-sequencing method.
  
  
  RESULTS
  Seven out of 24 cases of PKU had different kinds of band-shifting, which are subjected to two patterns of polymorphism. The first one, only in one case, has one mutation band migrating before the normal bands, while, the second one, which was common among the cases, had both the mutation bands running ahead of the normal bands. By sequence analysis, these polymorphic patterns corresponded to two noval mutations. One was a GT-->AT substitution at the 5' splice donor site of intron 4, and the other is an A to C transversion at position-11 of intron 3.
  
  
  CONCLUSIONS
  The two mutations are both first reported. The 5' donor splicing mutation may result in skipping of the preceeding exon during RNA processing. The A to C transversion, which accounted for about 20% of the Chinese PKU alleles is a polymorphism changes.
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Peking Union Medical College, Beijing.
authors.forename: L
authors.initials: L
authors.lastname: Xu
authors.forename: S
authors.initials: S
authors.lastname: Miao
authors.forename: G
authors.initials: G
authors.lastname: Liu
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D010651:Phenylalanine Hydroxylase