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

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 investi...

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Bibliographic Details
Published in:Human genetics 1997-09, Vol.100 (3-4), p.457-458
Main Authors: NAMEKATA, K, OYAMA, F, IMAGAWA, M, IHARA, Y
Format: Article
Language:English
Subjects:
Biological and medical sciences
Classical genetics, quantitative genetics, hybrids
Codon
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Genotype
Human
Humans
Mutation
Polymerase Chain Reaction
Transferrin - genetics
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050533