THE POLYMERASE CHAIN-REACTION (PCR) IN THE ROUTINE GENETIC-CHARACTERIZATION OF RETINOBLASTOMA - A TOOL FOR THE CLINICAL LABORATORY

The Polymerase Chain Reaction (PCR) is a highly innovative technique w hich allows for the generation of large amounts of DNA starting from m inute quantities obtained from the blood or tissue of a patient. With the increasing knowledge concerning the structure of the human genome and the potential to amplify specific segments of DNA by the PCR techn ique, the molecular genetic characterization of many ocular disorders has been greatly facilitated. This is particularly true of retinoblast oma (RE) where the causative gene, RB1, has been identified and charac terized. Using the PCR technique, specific sequences of the RB1 g-ene can be amplified and analyzed to precisely define the genetic mutation in an affected individual. In addition, this technique can also be ap plied in order to characterize the genetic defect within the tumor its elf. In this report we illustrate the use of the PCR technique in the genetic characterization of the RB1 gene and its application to the st udy of RE. These techniques are applicable even in a small clinical la boratory and can be extended to a number of ophthalmic disorders. (C) 1997 by Elsevier Science Inc.