[A study of phenylketonuria heterozygotes screening in married population of Tianjin area].
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.
Song
L
L
Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, 300074 P.R. China, ypingsli@yahoo.com
Xu
F
F
Meng
Y
Y
Wang
X
X
Liu
C
C
Gao
W
W
Shan
Z
Z
Liu
C
C
Ding
Z
Z
D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000235:genetics*
D010649:Phenylalanine