非整倍体胎儿羊水质谱多肽初步筛选

Screening of aneuploid fetal amniotic fluid peptides by mass spectrometry

目的利用基质辅助激光解吸电离飞行时间质谱仪Clin-TOF-II研究非整倍体胎儿羊水多肽质谱变化规律。方法选取96例2015年6月-2016年6月来深圳市龙岗区妇幼保健院进行介入性产前诊断的羊水标本。依据染色体核型分析报告筛选得到21、18、XXY、XYY、X 5种染色体非整倍体羊水标本46例,正常标本50例为对照,进一步进行多肽组学质谱分析。结果通过分析正常对照与非整倍体羊水多肽质谱数据,得到124个差异性多肽峰(P<0.05),其中显著性多肽峰95个(P<0.01),极显著性多肽峰29个(P<0.001)。其中2245.8 m/z和1025.7 m/z极显著性多肽峰标本重现性最好。根据2245.8 m/z和1025.7 m/z多肽峰建立羊水非整倍体诊断模型,评估其对鉴别胎儿非整倍体的临床价值。结论径向基函数网络RBF模型可作为区分正常对照组与非整倍体的理想模型。

Objective To study the variation of peptideomics of aneuploid fetal amniotic fluid by clinical matrix-assisted laser desorption/ionization time-of-flight mass spectrometer Clin-TOF-II.Methods 96 cases of amniotic fluid specimens for interventional prenatal diagnosis were collected from June 2015 to June 2016 in Longgang district maternal and child health hospital.According to the karyotype analysis results,46 chromosome aneuploid specimens of 21,18,XXY,XYY,X were screened,and 50 normal specimens were used as controls.Mass spectrometry analysis was performed.Results By analyzing the normal control and aneuploid amniotic fluid mass spectral data,124 differential polypeptide peaks(P<0.05)were obtained,including 39 significant peptide peaks(P<0.01)and 29 extremely significant polypeptide peaks(P<0.001).Among them,2245.8 m/z and 1025.7 m/z extremely significant peptide peaks were the most reproducible.Based on 2245.8 m/z and 1025.7 m/z peptide peaks,we established a diagnostic model of amniotic fluid aneuploidy to evaluate its clinical value in identifying fetal aneuploidy.Conclusion RBF model can be used as an ideal model to distinguish the normal control group from aneuploidy.