[The human genome with special emphasis on chromosome 1]

The development of knowledge of human genomes to the present stage was influenced by three specific genetic methodologies. Chromosomology after the beginning of the fifties, genetics of somatic cells, which began in the mid-sixties and molecular genetics which started at the end of the seventies (1). All methodologies contributed in their time to the mapping of genes and the construction of gene maps. The submitted review is devoted in particular to chromosome 1. Information pertaining to gene mapping helps to elucidate the evolution, organization of controlling mechanisms of the pathogenesis of hereditary disease, neoplasias, malformations for prenatal and premorbid diagnosis and perspectively for gene therapy.