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化学学报
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化学学报 ›› 2001, Vol. 59 ›› Issue (1): 133-136. 上一篇    下一篇

研究论文

GC-MS方法诊断新生儿苯丙酮尿症

邓春晖;胡耀铭;胡克季;张雅芬;顾学范   

  1. 复旦大学分析测试中心.上海(200433);上海新华医院
  • 发布日期:2001-01-15

GC-MS screening of phenylketonuria in newborns

Deng Chunhui;Hu Yaoming;Hu Keji;Zhang Yafen;Gu Xuefan   

  1. Fudan Univ, Ctr Anal & Measurement.Shanghai(200433)
  • Published:2001-01-15

PDF

908

被引次数

15 | 5

用甲醇提取血样中的苯丙氨酸(Phe)、酪氨酸(Tyr)，提取液离心去蛋白质，用正丁醇将其中的苯丙氨酸和酪氨酸丁酯比，再用三氟醋酸酐酰化后进行GC-MS分析，测定Phe，Tyr特征离子峰面积，用外标法计算出Phe和Tyr的摩尔浓度，根据Phe和Tyr摩尔浓度比值来诊断新生儿苯丙酮尿症(PKU)。

关键词: 色谱质谱法, 苯丙酮尿症, 氨基酸, 苯丙氨酸, 酪氨酸

Phenylalanine(Phe) and Tyrosine(Tyr) were extracted from dry blood spots with 0.1% mol/L HCl-methanol. The proteins in the extraction were revomed by centifuging. Phe and Tyr were treated with 3.0 mol/L HCl-butanol. Phe and tyr butyl esters were treated with trifluoro acetic anhydride. the derivatives from Phe and Tyr were analyzed by GC-MS. The contents of the two amino acids in blood samples were determined by calculating the areas of their derivatives with reference to an exterior standard. Finally the diagnosis of PKU was made on the basis of the molar content ratios of Phe to Tyr.

Key words: CHROMATOGRAPHY-MASS SPECTROGRAPHY, AMINOACIDURIA, AMINO ACID, PHENYLALANINE, TYROSINE

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