Introduction to Interphase Molecular Cytogenetics

Abstract

The history of interphase cytogenetics can be traced back to the pioneering works on descriptions of intracellular compartments dated at the end of the nineteenth century. However, it was not until the development of molecular cytogenetic techniques that the direct analysis of human interphase chromosomes began. During the past three decades, tremendous efforts have been made toward the elucidation of how the cellular genome is organized at molecular and supramolecular (chromatin and chromosomal) levels. As a result, we do possess powerful molecular cytogenetic technologies for diagnosing chromosome abnormalities in interphase and studying chromosome number, structure, and behavior variations in single cells at molecular resolutions through the entire cell cycle. Using several seminal reviews as milestones, it was possible to show the development of interphase (molecular) cytogenetics in historical perspective. As one can notice, the main achievements in studying interphase chromosomes were made because of technological developments in molecular cytogenetics. Therefore, the present introduction to interphase molecular cytogenetics is not only limited to listing changing of concepts in studying interphase chromosomal architecture and molecular cytogenetic diagnosis, but also briefly describes the technological basis of this dynamically developing biomedical field.