The Influence of Transferrin Gene Polymorphism on Measuring Carbohydrate Deficient Transferrin by Capillary Electrophoresis

Objective To determine the influence of isoforms of transferrin (Tf) on the detection of serum carbohydrate-deficient transferrin (CDT) by capillary electrophoresis (CE). Methods A total of 51, 17, and 65 serum samples were collected from the healthy participants, the patients with non-alcoholic liver diseases, and the patients with alcoholic liver diseases, respectively. Serum CDT was measured by CE. The genotype ofTf of the samples without a good separation was further analyzed using high resolution melting (HRM) methods. Those with suspected mutation were confirmed by sequencing. Results Six samples showed incomplete separation (2 from the healthy participants, 3 from the patients with non-alcoholic liver diseases, 1 from the patient with alcoholic liver diseases). Of the 133 serum samples, 2.3% (3/133) were detected withTf-Dchi heterozygote. But noTf-D1 andTf-B2 heterozygote were identified. Conclusion Tf-Dchi variant influences the measurement of carbohydrate deficientTf by CE, leading to unreliable results.