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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 a reliable and feasible method for screening heterozygotes of phenylketonuria (PKU). Methods Rapid determination of phenylalanine and tyrosine in plasma by reversed-phase high performance liquid chromatography (RP-HPLC) was used to detect and statistically analyze more than 10 PKU heterozygotes and 2023 married individuals. Results It was known that the Phe concentration, Phe / Tyr and Phe2 / Tyr ratios of PKU heterozygotes were significantly higher than those of the screening population, the difference was significant. Known PKU heterozygotes were used as a cutoff of x ± 2 s for each value obtained from the screening population, showing a total coincidence rate of 94.1%. Based on the above mentioned reference values, 81 positive cases were screened out of 2 023 married groups. The actual frequency of carrying the PKU pathogenicity gene (heterozygote) in the population for the first time was about 4%. Conclusion This method can effectively identify PKU heterozygotes and can be used for screening of population PKU heterozygotes.