title: [Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].
abstract: OBJECTIVE
  To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) from the Qinghai area of China, in order to provide basic information for genetic counseling and prenatal diagnosis.
  
  
  METHODS
  Mutations of the PAH gene were detected in the promoter and exons 1-13 and their flanking intronic sequences of PAH gene by PCR and DNA sequencing in 49 children with PKU and their parents from the Qinghai area of China.
  
  
  RESULTS
  A total of 30 different mutations were detected in 80 out of 98 mutant alleles (82%), including 19 missense (63%), 5 nonsense (17%), 3 splice-site (10%) and 3 deletions (10%). Most mutations were detected in exons 3, 6, 7, 11 and intron 4 of PAH gene. The most frequent mutations were p.R243Q (19%), IVS4-1G>A (9%), p.Y356X (7%) and p.EX6-96A>G(5%). Two novel mutations p.N93fsX5 (c.279-282delCATC) and p.G171E (c.512G>A) were found. p.H64fsX9(c.190delC) was documented for the second time in Chinese PAH gene. The mutation spectrum of the gene PAH in the Qinghai population was similar to that in other populations in North China while significantly different from that in the populations from some provinces in southern China, Japan and Europe.
  
  
  CONCLUSIONS
  The mutations of PAH gene in the Qinghai area of China demonstrate a unique diversity, complexity and specificity.
authors.affiliation: Institute of Clinical Medicine, Urumqi General Hospital of Lanzhou Military Region, Urumqi 830000, China. yuwz2013@126.com.
authors.forename: Jiang
authors.initials: J
authors.lastname: He
authors.forename: Hui-Zhen
authors.initials: HZ
authors.lastname: Wang
authors.forename: Fa-Liang
authors.initials: FL
authors.lastname: Xu
authors.forename: Xi
authors.initials: X
authors.lastname: Yang
authors.forename: Rui
authors.initials: R
authors.lastname: Wang
authors.forename: Hong-Yun
authors.initials: HY
authors.lastname: Zou
authors.forename: Wu-Zhong
authors.initials: WZ
authors.lastname: Yu
mesh_terms: D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase