Division of Metabolism, University Children's Hospital Zürich, Zürich, Switzerland.
Clinical Pharmacology Laboratory, Institute for Infectious Diseases, University of Bern, Bern, Switzerland.
J Sep Sci. 2018 Jul;41(13):2808-2818. doi: 10.1002/jssc.201800082. Epub 2018 May 28.
High-resolution capillary zone electrophoresis is used to assess the transferrin profile in serum of patients with eight different congenital disorders of glycosylation that represent type I, type II, and mixed type I/II disorders. Capillary zone electrophoresis data are compared to patterns obtained by gel isoelectric focusing. The high-resolution capillary zone electrophoresis method is shown to represent an effective tool to assess the diversity of transferrin patterns. Hypoglycosylated disialo-, monosialo-, and asialo-transferrin in type I cases can be distinguished from the corresponding underdesialylated transferrin glycoforms present in type II disorders. The latter can be separated from and detected ahead of their corresponding hypoglycosylated forms of type I patients. Both types of glycoforms are detected in sera of mixed type I/II patients. The assay has the potential to be used as screening method for congenital disorders of glycosylation. It can be run with a few microliters of serum when microvials are used.
采用高分辨率毛细管区带电泳法分析 8 种不同的先天性糖基化缺陷患者血清中的转铁蛋白图谱，这些患者分别代表 I 型、II 型和 I/II 混合型缺陷。将毛细管区带电泳数据与凝胶等电聚焦获得的图谱进行比较。结果表明，高分辨率毛细管区带电泳法是评估转铁蛋白图谱多样性的有效工具。I 型病例中低聚糖基化的二唾液酸、单唾液酸和无唾液酸转铁蛋白与 II 型疾病中相应的低唾液酸化转铁蛋白糖型可以区分开来。后者可以与 I 型患者相应的低聚糖基化形式分离并先于其检测到。混合 I/II 型患者的血清中同时检测到这两种糖型。该方法具有作为先天性糖基化缺陷筛查方法的潜力。当使用微量管时，该方法只需几微升血清即可运行。
