RsaI and BclI polymorphism of the transferrin receptor gene.

Polymorphism of the transferrin receptor gene has previously not been observed. Here we report two new restriction fragment length polymorphisms (RFLPs) of the transferrin receptor gene. Digestion with RsaI revealed three variable fragments at 1.15, 1.05 and 0.85 kb. After cleavage with BclI, two polymorphic 2.8- and 2.3-kb fragments were found. There was strong linkage disequilibrium between the two RFLPs, and Saamis showed a highly significant difference from Finns and Swedes with respect to allele frequencies. The new polymorphisms of the transferrin receptor gene may be useful markers in population and linkage studies and in studies of associations with body iron stores and susceptibility to genotoxic damage and cancer.