赣南地区非综合征性唇腭裂患者血浆代谢组学的研究.docVIP

赣南地区非综合征性唇腭裂患者血浆代谢组学的研究 　　[摘要] 目的 通过检测赣南地区非综合性唇腭裂（NSCL/P）患者与正常人血浆内源性代谢产物的变化，探讨基于核磁共振（NMR）的代谢组学方法在临床实践中的可行性。 方法 分别收集17例NSCL/P患者和16例正常人对照组的血浆样品，测定NSCL/P患者血浆的一维1H-NMR图谱，采用主成分分析法（PCA）分析NMR数据，以鉴别NSCL/P组和正常对照组血浆中内源血浆代谢产物的变化，获得NSCL/P患者的特征代谢物。 结果 NSCL/P组和正常对照组间的血浆代谢产物存在明显差别。与正常对照组相比，NSCL/P患者血浆中的缬氨酸、苯丙氨酸和酪氨酸的含量升高；NSCL/P患者血浆中的丙氨酸、胆碱、磷酰胆碱等代谢物的含量降低。 结论 采用基于NMR的代谢组学技术能较好地反映赣南地区NSCL/P患者血浆的代谢变化，通过1H-NMR代谢图谱获得NSCL/P的特征代谢物，可以初步探讨NSCL/P的代谢机制，表明了该技术在临床应用中具有很大的潜能。 　　[关键词] 代谢组学；非综合征性唇腭裂；主成分分析；血浆 　　[中图分类号] R782.2 [文献标识码] B [文章编号] 1673-9701（2014）36-0059-04 　　Preliminary investigation on plasma of non-syndromic NSCL/P using NMR-based metabonomics in southern Jiangxi 　　LING Yongchang1 LIU Ruizhen2 LIU Xiang1 ZHANG Ying1 LI Niansheng1 　　1.Department of Stomatology， the First Affiliated Hospital of Gannan Medical College， Ganzhou 341000， China； 2.Laboratory of Anatomy， Gannan Medical College， Ganzhou 341000， China 　　[Abstract] Objective To study the metabolic changes in plasma of non-syndromic cleft lip and/or palate （NSCL/P） patients in southern Jiangxi and to explore the feasibility of employing nuclear magnetic resonance （NMR）-based metabonomics in clinical practice. Methods Plasma samples were collected from 17 NSCL/P patients and 16 healthy controls. 1-dimensional 1H-NMR spectroscopy and principal component analysis（PCA） was performed to analyze plasma metabolomic profile. Discriminating metabolites were identified and the metabonomic difference in plasma was examined between NSCL/P patients and the control group. Results The plasma metabolic profiling in NSCL/P patients was clearly distinct from that of healthy controls. Compared with the control group， valine， phenylalanine and tyrosine were higher in plasma of NSCLP patients， while the levels of metabolites in plasma such as alanine， choline and phosphocholine were lower. Conclusion NMR-based metabonomics approach could clearly reflect the metabolic changes of plasma in NSCL/P patients. Our study clearly demonstrated the great