Determination of genetic transferrin variants in human serum by high‐resolution capillary zone electrophoresis

• Published in: Journal of separation science Vol. 37; no. 13; pp. 1663 - 1670
• Main Authors: Caslavska, Jitka, Joneli, Jeannine, Wanzenried, Ursula, Schiess, Jeannette, Lanz, Christian, Thormann, Wolfgang
• Format: Journal Article
• Language: English
• Published: Weinheim Wiley-VCH 01.07.2014; Blackwell Publishing Ltd; Wiley; Wiley Subscription Services, Inc
• Subjects: Biological and medical sciences; blood serum; Capillary electrophoresis; capillary zone electrophoresis; Carbohydrate-deficient transferrin; Electrophoresis, Capillary - methods; Genetic transferrin variant; Genetic Variation; Humans; Investigative techniques, diagnostic techniques (general aspects); Medical sciences; Miscellaneous. Technology; mixing; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; patients; Protein Isoforms - blood; Protein Isoforms - genetics; quality control; Serum - chemistry; transferrin; Transferrin - analysis; Transferrin - genetics; Human; Biological fluid; Molecular form; Chemical analysis; Zone electrophoresis; Healthy subject; Capillary electrophoresis; Genetic variant; Volunteer; Carbohydrate-deficient transferrin; Routine analysis; Patient; Blood; Carbohydrate deficient transferrin; Ultraviolet detector; Genetic transferrin variant; Clinical biology; Blood serum
• ISSN: 1615-9306; 1615-9314; 1615-9314
• DOI: 10.1002/jssc.201400243

High‐resolution capillary zone electrophoresis in the routine arena with stringent quality assurance is employed for the determination of carbohydrate‐deficient transferrin in human serum. The assay comprises mixing of human serum with a Feᴵᴵᴵ‐containing solution prior to analysis of the iron‐saturated mixture in a dynamically double‐coated capillary using a commercial buffer at alkaline pH. In contrast to other assays, it provides sufficient resolution for proper recognition of genetic transferrin variants. Analysis of 7290 patient sera revealed 166 isoform patterns that could be assigned to genetic variants, namely, 109 BC, 53 CD, one BD and three CC variants. Several subtypes of transferrin D can be distinguished as they have large enough differences in pI values. Subtypes of transferrin C and B cannot be resolved. However, analysis of the detection time ratios of tetrasialo isoforms of transferrin BC and transferrin CD variants revealed multimodal frequency histograms, indicating the presence of subtypes of transferrin C, B and D. The data gathered over 11 years demonstrate the robustness of the high‐resolution capillary zone electrophoresis assay. This is the first account of a capillary zone electrophoresis based carbohydrate‐deficient transferrin assay with a broad overview on transferrin isoform patterns associated with genetic transferrin variants.