Clinical molecular-genetics for endocrine and metabolic diseases

Recently developed methods for the DNA-based diagnosis of endocrine and metabolic diseases, particularly genetic diseases, were reviewed. The molecular-diagnostic methods for a base substitution include the direct sequencing of a mutant gene, detection of a newly made RFLP site, the oligonucleotide method, the segregation analysis with RFLPs based on the linkage between and RFLP-allele and a disease locus, and the DNA/RNA mismatch method. Several examples of families with genetic diseases in which the diagnosis was successfully made are presented. Another gene mutation is a gene deletion. To detect such a deletion, the Southern hybridization method is useful. Several families with a disease, especially those with Duchenne muscular dystrophy, in which the diagnosis with deletion study was successful are presented. Finally, the method of prenatal diagnosis with the DNA technique was reviewed.