[Procedure to identify gene abnormalities responsible for genetically inherited disease such as porphyrias]

Some genetically inherited diseases such as mitochondrial encephalomyopathies are caused by the very few mutations in the mitochondrial gene, but the diseases such as porphyrias are caused by many different mutations in the gene responsible for the disease. So, determining the genetical status of each individuals belonging to a family suffering from the diseases requires the detection of the gene mutation in the family, since the mutations found in other families can not be easily expected to be found in the family. We report in this manuscript the general procedure how to identify mutations of the genes. The methods involved in the procedure reported were PCR-SSCP, PCR-DGGE, PCR-cloning, PCR-direct sequencing, Allele discrimination hybridization, Allele specific amplification and PCR restriction analysis.