1.A study of phenylketonuria heterozygotes screening in married population of Tianjin area
Li SONG ; Fengduo XU ; Yingtao MENG ; Xiulan WANG ; Cuiyun LIU ; Wenying GAO ; Zhongmin SHAN ; Chunjie LIU ; Zhaoqin DING
Chinese Journal of Medical Genetics 2001;18(1):56-58
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.
Result Analysis
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