Sanz-Nebot V, González P, Toro I, Ribes A, Barbosa J
Department of Analytical Chemistry, University of Barcelona, Av. Diagonal 647, 08028 Barcelona, Spain.
J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Dec 5;798(1):1-7. doi: 10.1016/s1570-0232(02)00442-7.
Carbohydrate Deficient Glycoprotein Syndrome (CDGS) is an inherited metabolic disease affecting all parts of the body. The biochemical diagnosis of this syndrome is based on the presence of a special marker in blood, Carbohydrate Deficient Transferrin (CDT), which is also a marker of chronic alcohol abuse. CDT is characterized by abnormal glycoforms of serum transferrin (Tf). In the present study, electrophoretic separation of human serum transferrin glycoforms was carried out using a bare fused-silica capillary and the glycoforms present in commercial Tf were baseline separated. The limit of detection (LOD) of human Tf was around the nmol concentration range. The LOD of the trisialo- and disialo-Tf, expressed as percentages of the tetrasialo-Tf peak area, were 0.5% for trisialo-Tf and 0.4% for disialo-Tf, and these values were appropriate for CDGS diagnosis. Moreover, Tf glycoforms were characterized using mass spectrometry (MS). The method was applied to the analysis of normal and pathological serum samples, after dilution. The results obtained suggest a way of making a rapid and simple CDGS diagnosis.
碳水化合物缺乏糖蛋白综合征（CDGS）是一种影响全身的遗传性代谢疾病。该综合征的生化诊断基于血液中一种特殊标志物——碳水化合物缺乏转铁蛋白（CDT）的存在，而CDT也是慢性酒精滥用的标志物。CDT的特征是血清转铁蛋白（Tf）的糖型异常。在本研究中，使用裸露的熔融石英毛细管对人血清转铁蛋白糖型进行了电泳分离，并且对市售Tf中存在的糖型进行了基线分离。人Tf的检测限（LOD）约在纳摩尔浓度范围内。以四唾液酸Tf峰面积的百分比表示，三唾液酸Tf和二唾液酸Tf的LOD分别为0.5%和0.4%，这些值适用于CDGS诊断。此外，使用质谱（MS）对Tf糖型进行了表征。该方法应用于稀释后的正常和病理血清样本分析。所得结果提示了一种快速简便的CDGS诊断方法。
