A METHOD AND PRIMERS FOR THE DIAGNOSIS OF HEREDITARY HAEMOCHROMATOSIS

摘要

A method of diagnosing Hereditary Haemochromatosis in a subject, including obtaining a biological sample containing nucleic acid from a subject, and examining the biological sample for the presence of a G to A polymorphism at nucleotide -831 of the HAMP gene sequence. The method further includes examining the biological sample for the presence of a G to T polymorphism at nucleotide -335 of the HAMP gene sequence. The presence of the -831 G to A polymorphism, or a combination of the-831 G to A polymorphism and the -335 G to T polymorphism is an indication that the subject is affected by Hereditary Haemochromatosis or is prone to develop Hereditary Haemochromatosis. Nucleotide acid primer pairs for use in the method are also described.