[Molecular biology analysis: hereditary hemochromatosis, Wilson disease, alpha 1-antitrypsin deficiency and Dubin-Johnson syndrome].

The molecular pathology of hereditary hemochromatosis, Wilson's disease, alpha 1-antitrypsin-deficiency and Dubin-Johnson syndrome could be well characterised during the last years. Diagnosis of hereditary hemochromatosis is reliably confirmed by PCR-augmentation and restriction-analysis. Wilson's disease is a monogenetic disease, which is characterised by over 50 mutations. Molecular diagnosis is complicated by the lack of a single specific mutation. Diagnosis of Dubin-Johnson syndrome and alpha 1-antitrypsin-deficiency is possible by PCR-analysis and hybridisation with specific oligonucleotides.