蛋白指纹图谱技术诊断胎儿神经管缺陷的初步研究

Pilot study on application of surface enhanced laser desorption/ionization time-of-flight mass spectrometry in amniotic fluid proteomic analysis for prenatal diagnosis of neural tube defects

目的:探讨表面增强激光解吸离子化飞行时间质谱(SELDI-TOF-MS)技术在胎儿神经管缺陷(NTD)产前诊断中的应用。方法:取神经管缺陷胎儿的孕妇羊水8例作为NTD组,取正常胎儿的孕妇羊水16例作为对照组,分别进行蛋白质谱分析,确定两组间蛋白峰值的差异。结果:24份羊水检测质谱图,共有96个蛋白质峰,通过统计分析,发现有5个不同质荷比蛋白质在两组的相对含量有明显差异。质荷分别为3484、8126、15112、16139和30891。结论:神经管缺陷胎儿孕妇的羊水中存在差异蛋白质的变化,这一组蛋白质谱图的特征变化具有疾病提示意义,可用于胎儿产前诊断。

Abstract Objective ： To explore the application of surface enhanced laser desorption/ionization time - of - flight mass spec-trometry （SELDI-TOF-MS） in detecting the specific biomarkers in maternal amniotic fluid of the foetus with neural tube defects （NTDs）. Methods： A total of 24 maternal amniotic fluid samples were obtained by transabdominal amniocentesis, of which 8 were from the pregnant women whose foetuses were diagnosed as neural tube defects by ultrasound and 16 from normal pregnant women. The protein profiles of the amniotic fluids were determined by SELDI - TOF - MS and compared between two groups. Results ： A total of 96 qualified mass peaks were detected in 24 samples. There was a significant difference in the rel-ative amount of 5 proteins between two groups, with different mass-to- charge ratios of 3484, 8126, 15112, 16139 and 30891. Conclusion： SELDI-TOF-MS can identify the differential expression of proteins in the amniotic fluid, and may help to screen the specific protein markers of NTDs.