CAJ | 학술논문

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101余例已知PKU杂合子和2023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±2s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2023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。
목적　심조일충사사분병동뇨증(phenylketonuria, PKU)잡합자적가고역행방법。방법　용반상고효액상색보쾌속검측혈장분병안산화락안산실험방법，대101여례이지PKU잡합자화2023명이혼군체분별진행검측화통계분석。결과　이지PKU잡합자적Phe농도、Phe/Tyr화Phe2/Tyr비치명현고우사사군체，차이유현저성。용사사군체소득각치적±2s위계형량이지PKU잡합자，현시총부합솔위94.1%。근거상술삼고치재2023명이혼군체중사출81례양성자，수차획득군체휴대PKU치병기인(잡합자)적실제빈솔약위4%。결론　해방법가유효지감별PKU잡합자，가용우군체PKU잡합자적초사。
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.