中文摘要：

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。

英文摘要：

Objective：To establish proteomic profiling using functional magnetic bead based sample fractionation method combinded with matrix-assisted laser desorption/ionization time of flight mass spectrometry（MALDI-TOF-MS）technology and to seek potential biomarkers of Trisomy 21 syndrome for prenatal diagnosis.Methods： The plasma protein profiling of one group of 12 Trisomy 21 syndrome and one group of 10 normal controls by Autoflex Ⅱ magnetic bead enrichment and MALDI-TOF-MS was analyzed and each group was repeated 3 times.Result：The two peaks with mass charge ratio（m/z）8216.17Da and 8935.58Da optimally discriminated Trisomy 21 syndrome from normal control group.Conclusion： Functional magnetic bead based sample fractional method combined with MALDI-TOF-MS is accurate and stable protein with m/z 8216.17Da and 8935.58Da,which may be potential biomarker to distinguish Trisomy 21 syndrome from normal fetal.