DIFFERENT APPROACHES TO MOLECULAR SCANNING OF POINT MUTATIONS IN GENETIC-DISEASES

Several advanced techniques to detect mutations have been developed du ring the last years. Scanning procedures can be classified as ''physic al'' and ''cleavage'' methodologies. Physical methods include Denaturi ng Gradient Gel Electrophoresis, Single-Strand Conformation Polymorphi sm and Heteroduplex Analysis while cleavage methods include RNAse A Cl eavage, Chemical Mismatch Cleavage and Enzyme Mismatch Cleavage. A rel ated technique, Protein Truncation Test, has been recently introduced.