Abstract
Transferrin (Tf) has many variants, as revealed by isoelectric focusing (IEF). Although these Tf variants have long been thought to arise from the multiple alleles at single Tf locus, amino acid substitution related to the two major variants, Tf C1 and Tf C2, has so far not been reported. We investigated the difference responsible for Tf C1 and Tf C2 variants and identified a single base change in exon 15 of the Tf gene resulting in the phenotypes on IEF. C/T base substitution at codon 570 replaced Pro in Tf C1 with Ser in Tf C2. Based on this nucleotide substitution, we established PCR-based genotyping for the Tf C1 and Tf 2 alleles.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 20 February 1997 / Accepted: 9 April 1997
Rights and permissions
About this article
Cite this article
Namekata, K., Oyama, F., Imagawa, M. et al. Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant. Hum Genet 100, 457–458 (1997). https://doi.org/10.1007/s004390050533
Issue Date:
DOI: https://doi.org/10.1007/s004390050533