中期染色体制备及染色体畸变分类

Metaphase Chromosome Preparation and Classification of Chromosomal Aberrations.

作者信息

Kato Takamitsu A

机构信息

Department of Environmental & Radiological Health Sciences, Colorado State University, Fort Collins, CO, USA.

出版信息

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

DOI:10.1007/978-1-0716-2433-3_2

PMID:36066705

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.

摘要

染色体畸变是指染色体结构和数量的改变。中期染色体可通过标准光学显微镜进行分析，以检测染色体畸变。近年来，使用荧光探针和荧光显微镜可以进行详细分析或快速分析。染色体畸变的起源可能是DNA修复、细胞分裂和DNA合成过程中的错误。染色体畸变分析可用于广泛的分析。它包括将DNA损伤与细胞死亡和诱变联系起来的基础科学，以及用于遗传性疾病诊断和辐射暴露后生物剂量测定的工具。特定的DNA损伤会产生独特类型的染色体畸变。对染色体畸变的分析使我们能够研究遗传毒性应激的机制。然而，一种类型的DNA损伤会导致染色体结构的多种变化。这常常令人困惑。本章介绍中期染色体铺片制备的标准技术和染色体畸变的典型分类。