Advertisement

Human Genetics

, Volume 100, Issue 3–4, pp 457–458 | Cite as

Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant

  • Kazuhiko Namekata
  • Fumitaka Oyama
  • Masaki Imagawa
  • Y. Ihara
Original investigation

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.

Keywords

Nucleotide Codon Transferrin Amino Acid Substitution Nucleotide Substitution 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • Kazuhiko Namekata
    • 1
  • Fumitaka Oyama
    • 1
  • Masaki Imagawa
    • 2
  • Y. Ihara
    • 1
  1. 1.Department of Neuropathology, Institute for Brain Research, Faculty of Medicine, University of Tokyo, Hongo, Bunkyo-ku, Tokyo 113, Japan Tel.: +81-3-3812-2111 ext. 3541; Fax: +81-3-5800-6852; e-mail: yihara@m.u-tokyo.ac.jpJP
  2. 2.Hyogo Prefectural Amagasaki Hospital, Amagasaki-shi, Hyogo 660, JapanJP

Personalised recommendations