基于质谱筛选唐氏综合症母体血清蛋白标志物的研究

Screening Maternal Serum Protein Markers of Down’s Syndrome Based on Mass Spectrometry

目的:筛选可以早期检测唐氏综合症的特异性母体血清蛋白标志物。方法:收集经羊水穿刺确诊为唐氏综合症胎儿的孕中期母体血清(14~20周)和同时间点正常孕妇血清各10份。进行质谱检测,分析差异表达蛋白质进一步进行western blot分析验证。结果:经质谱分析,在唐氏综合症胎儿母体的血清中共发现异常表达1.0倍以上的蛋白质13个。DAVID功能分析显示,13个差异蛋白主要参与脂蛋白生物合成分解、细胞凋亡和血小板脱颗粒等细胞生物学过程。用western blot检验异常表达2.5倍以上的蛋白FN1和IGFBP3,证实二者在唐氏综合症胎儿母体的血清中的表达均显著高于正常对照组(P<0.05)。结论:应用质谱技术来是有效的筛选唐氏综合症母体血清蛋白标志物的方法,并且FN1和IGFBP3可能是筛选唐氏综合症胎儿的潜在新标志物。

Objective: To detect specific maternal serum protein markers for Down’s syndrome early. Methods: Ten maternal sera(14~20 weeks) and 10 normal maternal sera at the same time point were collected. The differential expression proteins were analyzed by mass spectrometry and further verified by Western blot. Results: By mass spectrometry analysis, 13 proteins with abnormal expression of more than 1.0 times were found in maternal serum of Down syndrome fetuses. DAVID functional analysis showed that 13 differentially expressed proteins were mainly involved in lipoprotein biosynthesis and decomposition, apoptosis and platelet degranulation. The abnormal expression of FN1 and IGFBP3 in maternal serum of Down’s syndrome fetus was 2.5 times higher than that in normal control group(P<0.05). Conclusion: Mass spectrometry is an effective method for screening maternal serum protein markers of Down syndrome, and FN1 and IGFBP3 may be potential new markers for screening Down syndrome fetuses.