A study of phenylketonuria heterozygotes screening in married population of Tianjin area
10.3760/j.issn:1003-9406.2001.01.016
- VernacularTitle:天津地区已婚群体苯丙酮尿症杂合子筛查
- Author:
Li SONG
1
;
Fengduo XU
;
Yingtao MENG
;
Xiulan WANG
;
Cuiyun LIU
;
Wenying GAO
;
Zhongmin SHAN
;
Chunjie LIU
;
Zhaoqin DING
Author Information
1. 天津市儿童医院
- From:
Chinese Journal of Medical Genetics
2001;18(1):56-58
- CountryChina
- Language:Chinese
-
Abstract:
Objective To find out a method that is simple and reliable for screening phenylketonuria(PKU) heterzygotes.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 Phe2/Tyr. The values of plasma Phe, Phe/Tyr and Phe2/Tyr from 94.1% known-PKU heterozygotes were higher than +2s of those values from screening population. According to the limits of +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.Conculsion The biochemical method mentioned above is available for use in screening PKU heterozygotes.
