天津地区已婚群体苯丙酮尿症杂合子筛查

A study of phenylketonuria heterozygotes screening in married population of Tianjin area

目的 寻找一种筛查苯丙酮尿症 (phenylketonuria,PKU)杂合子的可靠易行方法。方法 用反相高效液相色谱快速检测血浆苯丙氨酸和酪氨酸实验方法 ,对 10 1余例已知 PKU杂合子和 2 0 2 3名已婚群体分别进行检测和统计分析。结果 已知 PKU杂合子的 Phe浓度、Phe/ Tyr和 Phe2 / Tyr比值明显高于筛查群体 ,差异有显著性。用筛查群体所得各值的 x± 2 s为界衡量已知 PKU杂合子 ,显示总符合率为94.1%。根据上述参考值在 2 0 2 3名已婚群体中筛出 81例阳性者 ,首次获得群体携带 PKU致病基因 (杂合子 )的实际频率约为 4%。结论 该方法可有效地鉴别 PKU杂合子 ,可用于群体 PKU杂合子的初筛。

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 Phe 2/Tyr. The values of plasma Phe, Phe/Tyr and Phe 2/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.