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US 7,608,401 B2Granted
Mutations in the ferroportin 1 gene associated with hereditary haemochromatosis
OwnerAntonello Pietrangeloinventor
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Abstract
The present invention relates to mutations in the gene coding for ferroportin 1 associated with hereditary haemochromatosis and methods for the diagnosis of hereditary haemochromatosis based on the identification of such mutations.
Claims13
A method of determining a predisposition to hereditary haemochromatosis in a human, the method comprising:
- a) isolating a nucleic acid encoding a ferroportin 1 protein from the human, wherein the ferroportin 1 protein comprises SEQ ID NO:2;
- and
- b) detecting if a codon sequence in the nucleic acid encodes aspartic acid at position 77 of SEQ ID NO:2 to determine if the human is predisposed to suffer from hereditary haemochromatosis;
- wherein it is determined that the human is predisposed to suffer from hereditary haemochromatosis when the codon sequence in the nucleic acid is detected to encode aspartic acid at position 77 of SEQ ID NO:2.
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Dependencies are inferred from the claim text.