Metaphase Chromosome Preparation and Classification of Chromosomal Aberrations

Methods Mol Biol. 2023:2519:9-15. doi: 10.1007/978-1-0716-2433-3_2.

Abstract

Chromosomal aberrations are changes in structure and number of chromosomes. Metaphase chromosome can be analyzed by a standard light microscope to detect chromosomal aberrations. Recently, detailed analysis or rapid analysis was possible by using fluorescence probes and fluorescent microscope. The origins of chromosomal aberrations can be errors of DNA repair, cell divisions, and DNA synthesis. Analysis of chromosome aberrations can be used for the wide range of analysis. It includes a basic science connecting DNA damage to cellular death and mutagenesis and diagnostic tools for hereditary diseases and biodosimetry following radiation exposure.Specific DNA damages produce unique types of chromosomal aberrations. Analysis of chromosomal aberrations enables us to investigate the mechanisms of genotoxic stress. However, one type of DNA damage provides a variety of changes in chromosome structures. It is often confusing. This chapter introduces the standard technique of metaphase chromosome spread preparation and typical classification of chromosomal aberrations.

Keywords: Chromatid-type aberrations; Chromosomal aberrations; Chromosome type aberrations; Metaphase spread.

MeSH terms

  • Chromosome Aberrations*
  • Chromosomes*
  • DNA Damage
  • DNA Repair
  • Humans
  • Metaphase