Polymorphisms in the region of the human hemochromatosis gene

摘要

Polymorphic sites in the region surrounding the HFE gene are provided. These polymorphisms are useful as surrogate markers in diagnostic asseys for hemochromatosis. Additionally, a fine structure map of the 1 megabase region surrounding the HFE gene is provided, along with 235 kb of DNA sequence and 8 loci corresponding to candidate genes within the 1 megabase region, and in the purification of related proteins.