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目的:应用液体蛋白芯片飞行时间质谱技术分析21-三体综合征胎儿羊水的蛋白质表达谱,寻找具有潜在诊断意义的羊水标记物,以用于产前快速诊断21-三体综合征。方法:收集12例21-三体综合征和10例正常胎儿孕中期羊水标本,经SPE-C磁珠纯化、基质辅助激光解析电离飞行时间质谱(MALDI-TOF-MS)分析及FlexAnalysis3.0软件分析系统研究其羊水蛋白表达谱。每组样品重复检测3次。结果:质荷比(m/z)为8216.17Da和8935.58Da的蛋白丰度能较好的鉴别21-三体综合征组和正常组。结论:液体蛋白芯片飞行时间质谱技术作为研究蛋白表达谱的工具,具有良好的重复性和精确度,筛选得到的m/z为8216.17Da和8935.58Da的蛋白可能是潜在的21-三体综合征胎儿区别于正常胎儿的羊水标记物。
OBJECTIVE: To analyze the protein expression profile of fetal amniotic fluid in 21-trisomy syndrome by liquid protein chip time-of-flight mass spectrometry, and to find a potentially diagnostic marker of amniotic fluid for early diagnosis of 21-trisomy syndrome. Methods: 12 cases of 21-trisomy and 10 cases of normal fetuses in the second trimester of pregnancy were collected and purified by SPE-C magnetic beads, MALDI-TOF-MS and FlexAnalysis 3.0 software Analysis system to study its amniotic protein expression profile. Each group of samples was tested 3 times. Results: The protein abundance with mass / charge ratio (m / z) of 8216.17Da and 8935.58Da could identify 21-trisomy and normal group well. Conclusion: Liquid protein chip time-of-flight mass spectrometry (SDS-MS / MS) was used as a tool to study protein expression profile with good reproducibility and repeatability. The selected proteins with m / z of 8216.17Da and 8935.58Da could be potential trisomy 21 Fetal amniotic fluid markers different from normal fetuses.