【基础医学】10人类染色体畸变ENG V.ppt

Any type of change in the chromosome structure or number (deficiencies, duplications, translocations, inversions, etc.). Although it can be a mechanism for enhancing genetic diversity, such alterations are usually fatal or ill-adaptive, especially in animals. 1. factors inducing chromosome aberration A. Ionizing radiation Ionizing radiation produces rearrangements of the genome. When irradiation occurs during the G0/G1 phase of the cell cycle, large-scale rearrangements appear as exchange-type chromosome aberrations at the next mitosis. Such aberrations can alter cellular phenotypes, and are important in various areas of biology: Medical and public-health applications include perinatal diagnostics characterization of specific cancer types, carcinogenesis risk estimation, radiation biodosimetry and radiotherapeutic treatment planning. Analyzing chromosome aberrations helps characterize repair/misrepair pathways involved in the processing of DNA damage. Ionizing radiation has some unique features as a probe of such pathways. Compared to other genotoxic agents, it produces copious quantities of DNA double strand breaks (DSBs), and its timing can be controlled more accurately. Moreover, initial radiation damage has a discrete, stochastic character that can be modulated by using different kinds of radiation (e.g. a -particles versus x-rays) having different ionization densities. The spectrum of different radiation-induced chromosome aberrations is informative about the geometry of chromosomes during interphase, and vice versa. Chromosomal instability, in which new aberrations (though often not of the type characteristic of G0/G1 damage) continue to arise many generations after irradiation, represents a form of genomic instability, and genomic instability is prominent during neoplastic progression. B. chemical mutagen A kind of substances, such as drugs or toxins ,that causes