METHOD AND PROBES FOR THE GENETIC DIAGNOSIS OF HEREDITARY HAEMOCHROMATOSIS

摘要

In a diagnosis method for haemochromatosis, a biological sample is analyzed according to the invention for the presence of the nucleotide sequence 5'-cccgccgtggcccagctcgcagggcagctcctc-3' (Sequence No. 3) instead of the nucleotide sequence 5'-cccgccgtggcccaggccgtggcccagctcgcagggcagctcctc-3' (Sequence No. 2) based upon a 12 nucleotide long deletion in Exon 16 of the TFR2 cDNA sequence. Or according to the invention a biological sample is analyzed for the presence of nucleic acids which code for a TFR2 product with an amino acid sequence Pro Ala Val Ala Gin Leu Ala Gly Gin Leu Leu (Sequence No. 5) instead of the amino sequence Pro Ala Val Ala Gin Ala Val Ala Gin Leu Ala Gly Gin Leu Leu (Sequence No. 4). A probe for the diagnosis of haemochromatosis is according to the invention capable of hybridization with nucleic acids of a biological sample in a region which contains the nucleotide sequence 5'-cccgccgtggcccagctcgcagggcagctcctc-3' (Sequence No. 3) in Exon 16 of TFR2 cDNA sequence.