摘要
本文介绍了遗传性代谢缺陷病(Inborn errors of metabolism IEM)的发病机理及其特点 并阐述了在早期对它进行检测的必要性。文章简要回顾了对IEM进行检测尤其是化学检测的发展历程。着重介绍了目前世界各国采用较多检测IEM的气相色谱-质谱联用(GC-MS)、串联质谱(Tandem-Mass)、毛细管电泳(CE)、高效液相色谱(HPLC)、核磁共振(NMR)、红外光谱(IR)等各种化学检测方法 比较了它们的特点和优缺点。
Inborn errors of metabolism (IEM) and their pathology are introduced. It is demonstrated that delayed diagnosis would do harm to neonate. Early diagnosis of IEM is a challenging and undeveloped area in China. In this review, we compare some recently used chemical diagnosis methods: gas chromatography-mass spectrometry, tandem mass spectrometry, capillary electropheresis, HPLC. NMR and IR. Their advantages and disadvantages are also discussed.
出处
《生命科学仪器》
2003年第1期10-14,共5页
Life Science Instruments
基金
"973"国家重点基础研究发展规划项目--中国人口出生缺陷的遗传与环境可控性研究(项目编号2001CB510306)资助
