METHOD AND PROBES FOR THE GENETIC DIAGNOSIS OF HEMOCHROMATOSIS

摘要

A method to diagnose hemochromatosis includes examining a biological sample for the presence of a G } A mutation at nucleotide 506 and/or a G } T mutation at nucleotide 502 and/or of a G } C mutation at nucleotide 502 of the HFE cDNA sequence and/or by examining the biological sample for the presence of a C } G mutation at nucleotide 750 and/or a T } A mutation at nucleotide 515 and/or a frameshift mutation by insertion of a cytosine in a polyC tract at nucleotides 84-88 of the TFR2 cDNA sequence or examining a biological sample for the presence of respective amino acid substitutions. Probes according to the invention are capable of hybridizing with nucleic acids of a biological sample in a region corresponding to a region of the HFE or TFR2 cDNA sequence containing the above mentioned positions if respective mutations exist.