DNA POLYMORPHISMS AND HAPLOTYPES IN THE HUMAN TRANSFERRIN GENE

Although a large number of human serum transferrin (TF) variants have been described, only one RFLP (AvaI) has so far been found. Here we re port three new RFLPs (MvaI in intron 5 and exon 7, BbvI in exon 7) and correlations between RFLPs and between RFLPs and serum TF types. Ther e were strong, but not always complete, disequilibria between RFLP and serum protein alleles. Thus, the most common serum TF variant, C1, wa s heterogeneous and could be subdivided into two common haplotypes, wh ereas the C2, C3, and DCHI variants were completely or almost complete ly (C2) homogeneous. There was a total genotypic agreement between the BbvI polymorphism and the presence/absence of the TF C3 variant, and the mutation that creates the BbvI site was found to lead to a G258S a mino acid substitution.