title: [A study of phenylketonuria heterozygotes screening in married population of Tianjin area].
abstract: OBJECTIVE
  To find out a method that is simple and reliable for screening phenylketonuria(PKU) heterozygotes.
  
  
  METHODS
  Detecting and analyzing plasma phenylalanine(Phe) and tyrosine(Tyr) from 101 known-PKU heterozygotes and 2023 married people by means of a high performance liquid chromatograph.
  
  
  RESULTS
  Significant differences were observed between known- PKU heterozygotes and screening population in plasma Phe, Phe/Tyr and Phe(2)/Tyr. The values of plasma Phe, Phe/Tyr and Phe(2)/ Tyr from 94.1% known-PKU heterozygotes were higher than mean+2s of those values from screening population. According to the limits of mean+2s, 81 cases were screened out from the 2023 married people. It was the first time to get the actual heterozygote frequency of 4% from population.
  
  
  CONCLUSIONS
  The biochemical method mentioned above is available for use in screening PKU heterozygotes.
authors.affiliation: Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, 300074 P.R. China, ypingsli@yahoo.com
authors.forename: L
authors.initials: L
authors.lastname: Song
authors.forename: F
authors.initials: F
authors.lastname: Xu
authors.forename: Y
authors.initials: Y
authors.lastname: Meng
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: C
authors.initials: C
authors.lastname: Liu
authors.forename: W
authors.initials: W
authors.lastname: Gao
authors.forename: Z
authors.initials: Z
authors.lastname: Shan
authors.forename: C
authors.initials: C
authors.lastname: Liu
authors.forename: Z
authors.initials: Z
authors.lastname: Ding
mesh_terms: D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000235:genetics*
chemical_list: D010649:Phenylalanine