title: The polymerase chain reaction (PCR) in the routine genetic characterization of retinoblastoma: a tool for the clinical laboratory.
abstract: The Polymerase Chain Reaction (PCR) is a highly innovative technique which allows for the generation of large amounts of DNA starting from minute 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 technique, the molecular genetic characterization of many ocular disorders has been greatly facilitated. This is particularly true of retinoblastoma (RB) where the causative gene, RB1, gene has been identified and characterized. Using PCR technique, specific sequences of the RB1 gene can be amplified and analyzed to precisely define the genetic mutation in an affected individual. In addition, this technique can also be applied in order to characterize the genetic defect within the tumor itself. In this report we illustrate the use of the PCR technique in the genetic characterization of the RB1 gene and its application to the study of RB. These techniques are applicable even in a small clinical laboratory and can be extended to a number of ophthalmic disorders.
authors.affiliation: Centro per la Ricerca Interdipartimentale, University of Siena, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Mastrangelo
authors.forename: N
authors.initials: N
authors.lastname: Squitieri
authors.forename: S
authors.initials: S
authors.lastname: Bruni
authors.forename: T
authors.initials: T
authors.lastname: Hadjistilianou
authors.forename: R
authors.initials: R
authors.lastname: Frezzotti
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D004273:DNA, Neoplasm / Q000032:analysis*; D005134:Eye Neoplasms / Q000235:genetics* / Q000473:pathology; D005654:Fundus Oculi; D016161:Genes, Retinoblastoma / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D012175:Retinoblastoma / Q000235:genetics* / Q000473:pathology
chemical_list: D004273:DNA, Neoplasm