A gene, HFE, which causes hereditary hemochromatosis was identified in 1996. Approximately 80% of individuals with hemochromatosis have a mutation of a single nucleotide in codon 282 of the HFE gene. This mutation results in a change from a guanine (G) to an adenine (A), and creates a new restriction site where the Rsa1 enzyme can cut. Thus, RFLP analysis can be used to determine if an individual has the mutation in the HFE gene.
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This representation of the normal and mutant copies of the HFE gene shows the size of the DNA fragments following cleavage with Rsa I.
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