[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.
Arnold
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Abteilung Innere Medizin II, Medizinische Universitätsklinik Freiburg.
D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D007566:Jaundice, Chronic Idiopathic / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis / Q000235:genetics*
Molekularbiologische Analysen: Hereditäre Hämochromatose, Morbus Wilson, alpha 1-Antitrypsin-Mangel und Dubin-Johnson-Syndrom.