title: [Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province].
abstract: OBJECTIVE
  To investigate the mutations of phenylalanine hydroxylase (PAH) gene in 20 phenylketonuria (PKU) patients from Yunnan.
  
  
  METHODS
  The 13 exons and the splicing regions of 12 introns of the PAH gene were sequenced to detect mutations in 20 unrelated PKU patients.
  
  
  RESULTS
  PAH gene sequencing has revealed 15 types of mutations, in which the most frequently mutation was p.R243Q (30.0%), followed by p.Y356X(10.0%), p.R111X (7.5%), IVS4+2T>A (7.5%) and p.V399V (7.5%). Exons 7, 11, 3 and introns 4, 11 were most frequently involved. Six novel mutations, including c.59A>C, c.60G>C, c.690_691insG, c.1119_1120insT, c.441+2T>A, c.842+4A>T and c.1200+1T>G were detected.
  
  
  CONCLUSIONS
  PAH gene mutations identified in Yunnan are more similar to those of northern China, with R243R being the most common, though there are still certain characteristics for the type and frequency of mutations.
authors: Genetic Diagnosis Center, The Affiliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, The Affiliated Kunhua Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China. bszhu@aliyun.com.
authors: Xinhua
authors: X
authors: Tang
authors: Hong
authors: H
authors: Chen
authors: Yinhong
authors: Y
authors: Zhang
authors: Li
authors: L
authors: Li
authors: Hongying
authors: H
authors: Mi
authors: Qingua
authors: Q
authors: Xu
authors: Baosheng
authors: B
authors: Zhu
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002681:China; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics; D055815:Young Adult
chemical_list: D010651:Phenylalanine Hydroxylase