| 摘要 |
The present invention relates to a method of diagnosing hereditary haemochromatosis in a subject, the method including steps of obtaining from the subject a biological sample such as blood, plasma, serum and biopsy tissue, containing nucleic acid, and examining the biological sample for the presence of one or more polymorphisms selected from the group including - 970G/T in the HFE gene sequence, IVS1+9G/A in the HFE gene sequence, -- 750G/A in the SLC40A1 gene sequence, E36K in the HAMP gene sequence, IVS2+20C/T in the CP gene sequence, and H977 in the CP gene sequence. The presence of one or more of these polymorphisms is an indication that the subject is affected by hereditary haemochromatosis or is prone to develop hereditary haemochromatosis. The invention further relates to a diagnostic kit for use in diagnosing hereditary haemochromatosis, as well as the use of one or more polymorphisms selected from the group including -970G/T in the HFE gene sequence, IVS1+9G/A in the HFE gene sequence, -750G/A in the SLC40A1 gene sequence, E36K in the HAMP gene sequence, IVS2+20C/T in the CP gene sequence, and H977 in the CP gene sequence, as a biomarker for hereditary haemochromatosis.
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