Molekulare Diagnostik bei genetischen Lebererkrankungen

New insights into the genetic basis of diseases are being generated at an ever increasing rate. This review discusses the application of molecular genetics with a special focus on hereditary diseases of the liver. The application of molecular genetics in everyday clinical routine is hampered by the sometimes difficult interpretation of test results. These difficulties include the prediction of disease penetrance (e.g. in patients with a homozygous HFE C282Y mutation), the presence of multiple mutations of a particular gene (e.g. in Wilson??s disease), the presence of mutations with varying functional consequences (e.g. in genes responsible for recurrent cholestasis syndromes) and the importance of exogenous factors modulating disease expression. To date the most significant impact of genetics has been to increase our understanding of disease etiology and pathogenesis and to reliably identify siblings of affected patients with a risk to develop symptomatic disease.