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目的肌醇(Inositol)缺乏与增加神经管畸形(Neural tube defects,NTDs)、神经障碍和新陈代谢等疾病风险密切相关。本研究对前期建立的气相色谱质谱(Gas chromatography-Mass spectrometry,GC-MS)联用方法进行优化,建立一种准确、高效、便捷及微量的测定人群血浆肌醇含量的气相色谱质谱联用方法,并应用于临床血浆样本检测。方法本研究优化已建立的检测方法,并用同位素标记法(内标法)验证此方法的准确性。结果与之前已建立的方法相比,这种新方法在血浆检测体积上进行了优化与提升,经过优化后,检测血浆所需体积更小,为30μL;并用同位素标记法(内标法)与已建立的方法进行比较,其结果具有良好的一致性。选取出生缺陷高发地区人群标本40例,其中正常孕妇20例,NTD孕妇20例,包括脊柱裂与无脑畸形各10例,并检测其血浆肌醇水平,发现孕NTDs胎儿孕妇的血浆肌醇水平显著低于同地区对照组(1.87±0.73mg/L&2.58±1.10mg/L,P=0.024),其中,脊柱裂组的肌醇水平明显降低(1.68±0.46 mg/L,P=0.033)。结论本文建立了一种准确、高效、便捷及微量的测定人群血浆肌醇含量的气相色谱质谱联用方法,可应用于临床检测,血浆肌醇检测有可能成为一个NTD筛查的标志物,有助于临床诊断及防治与肌醇代谢紊乱相关的疾病。
Inositol deficiency is associated with increased risk of neural tube defects (NTDs), neurological disorders and metabolic diseases. In this study, gas chromatography-mass spectrometry (Gas chromatography-mass spectrometry, GC-MS) combination method was optimized to establish an accurate, efficient, convenient and trace determination of plasma inositol in human plasma by gas chromatography-mass spectrometry , And used in clinical plasma samples. Methods In this study, the established detection methods were optimized and the accuracy of this method was verified by isotope labeling (internal standard method). Results Compared with the previously established method, this new method was optimized and improved in the plasma detection volume. After optimization, the volume required for the detection of plasma was smaller, 30 μL; and using isotope labeling (internal standard method) and The established methods are compared and the results are in good agreement. Forty patients with high incidence of birth defects were selected, including 20 normal pregnant women and 20 NTD pregnant women, including 10 cases of spina bifida and anencephaly. Their plasma levels of inositol were measured. The plasma levels of myo-inositol (1.87 ± 0.73mg / L vs 2.58 ± 1.10mg / L, P = 0.024). The inositol level in the spina bifida group was significantly lower than that in the control group (1.68 ± 0.46 mg / L, P = 0.033) . Conclusions This study established an accurate, efficient, convenient and trace method for the determination of plasma inositol in human plasma by gas chromatography-mass spectrometry (MS / MS), which can be used in clinical testing. Plasma inositol detection may become a marker of NTD screening. There are To help clinical diagnosis and prevention and treatment of disorders associated with myo-inositol metabolism.