[The human genome in clinical medicine]

A revolution is taking place in Medicine as a consequence of advances in biotechnology and informatics. The unraveling of the human genome with a description of chromosomal maps for all structural genes affords a new framework for the understanding of etiology, diagnosis and prevention of every disease. More than three thousand million nucleotides codifying over 100 thousand genes may be manipulated by RNA recombinant techniques in order to identify location and help understand pathogeny as well as diagnosis and treatment of disease. Relevant techniques for genome desciphering include familial linkage, somatic cell hybridization, RFLPs, enzymatic quantification and analysis of chromosomal aberrations. Pathology of the genome may originate from germinal or somatic mutations. Resulting diseases may be classified as classic disease, physiologic disorders, congenital malformations and chromosomal aberrations. All diseases arise from alterations in the genome. Substitution of defective genes offers new forms of therapy. Advancing knowledge in this may lead to better control and prevention of genetic diseases.