Molecular genetics for paediatric surgeons

Molecular genetic techniques have transformed the understanding of the development of tumours. Some important concepts and facts are illustrated in this brief review. A good example from developmental biology are the master control genes, the Hox genes. Mutation analysis work on drosophila in the 1980s confirmed the presence of axial control genes. Genetic techniques later applied to xenopus and rodents showed that animals share these and other homologous genes and developmental mechanisms. Axial specification is outlined because of its historic and biological importance. The genetics of some common and some rare (but illustrative) conditions are then summarized. Advances in the biology of neuroblastomas is used to illustrate the importance of the application of genetic techniques to tumours. The human genome is mapped and it is expected that the use of recombinant DNA technology, antisense agents and transgenic techniques will lead to a better understanding of the genetic control of development, the pathogenesis of congenital anomalies and the characterization of tumour biology.