title: [The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province].
abstract: OBJECTIVE
  To investigate the characteristics of the phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) in Henan province, China, in order for providing basic information for clinical genetic counseling and prenatal diagnosis.
  
  
  METHODS
  All the exons and partial flanking introns of the PAH gene were detected by polymerase chain reaction (PCR) and bi-directional sequencing in 34 patients with PKU from Henan province.
  
  
  RESULTS
  A total of 23 different disease-causing mutations were identified which corresponded to 92.65% (63/68) of the PAH alleles, including 12 missense mutations, 4 nonsense mutations, 4 splicing junction mutations, and 3 deletion mutations. Among them, A156P and P69_S70delinsP(delCTT) were novel mutations; IVS2+ 5G to C, G332E, IVS10-14C to G and L367 to Wfs were reported in Chinese population for the first time according to the PAH database (www.pahdb.mcgill.ca). Among all the 13 exons, exon 7 harbored the most type of mutations, exon 11 and exon 5 the second. The most common mutations included R243Q (17.65%, 12/68), V399V (11.76%, 8/68), IVS4-1G to A (8.82%, 6/68), R400T(7.35%, 5/68), Y166X(5.88%,4/68) and G247R(5.88%, 4/68). In addition, 9 other gene variations were found in this study.
  
  
  CONCLUSIONS
  The mutation spectrum and frequency of the PAH gene of patients with phenylketonuria in Henan province were slightly different from those from other parts of China.
authors.affiliation: Genetic Laboratory, People and Family Planning Scientific Research Faculty in Henan Province, Zhengzhou, Henan, P.R. China. rainbowwfy@yahoo.com.cn
authors.forename: Feng-yu
authors.initials: FY
authors.lastname: Wang
authors.forename: Chu-jun
authors.initials: CJ
authors.lastname: Shao
authors.forename: Hui-gen
authors.initials: HG
authors.lastname: Feng
authors.forename: Cong-min
authors.initials: CM
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics*; D011296:Prenatal Diagnosis
chemical_list: D010651:Phenylalanine Hydroxylase