| 摘要 |
The invention provides a method for the diagnosis of hemochromatosis or detection of a genetic predisposition for hemochromatosis by detecting the presence of a mutation in the hemochromatosis receptor class I-like heavy chain. The method involves detection of the hemochromatosis receptor using antibodies that react with antigenic determinants specific for the receptor. The invention also provides a method to purify the hemochromatosis ligand, which binds to the hemochromatosis receptor and to iron. The purification involves purification of the ligand from a sample by binding to an iron matrix support. The method further involves isolation of the ligand by binding to the mutated or non-mutated form of the hemochromatosis receptor attached to a solid support. |
