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(医学遗传学)人类染色体畸变

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Drug • antitumor drug(抗肿瘤药物)
环磷酰胺、氮芥、白硝安(马利兰)、甲 氨喋呤、阿糖胞苷等抗癌药物
• Tocolysis(子宫收缩抑制剂)
• drug which prevent pregnancy reaction(预
防妊娠反应的药物)
• anti-epileptic
苯妥英钠可引起人淋巴细胞多倍体细胞数增 高
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• agricultural chemicals Some agricultural chemicals can induce chromosome aberration, like phosphate pesticide.
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1. factors inducing chromosome aberration
A. Ionizing radiation Ionizing radiation produces
rearrangements of the genome.
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When irradiation occurs during the G0/G1 phase of the cell cyclБайду номын сангаас, 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:
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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.
• Industrial poisons
苯、甲苯、铝、砷、二硫化碳、氯丁二稀、 氯乙烯单体
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• Food additive
Preservative(防腐剂),pigment(色素),AF-2(硝基 呋喃基糖酰胺),benzosulfimide(环己基糖精)。
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C biological mutagen
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B. chemical mutagen
A kind of substances, such as drugs or toxins ,that causes chromosomal aberrations of living organisms, or increase the rate of mutation.
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Although it can be a mechanism for enhancing genetic diversity, such alterations are usually fatal or ill-adaptive, especially in animals.
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D Maternal age
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Down综合征与母亲年龄
2. chromosomal aberrations
A. chromosome numerical aberration
Numerical aberration is a change in the number of chromosomes from the normal number characteristic of the human beings.
• toxoid sterigmatocystin(杂色曲霉素),
Flavacin(黄曲霉素), clavacin(棒曲霉素)等 • virus
German measles virus(风疹病毒), (hepatovirus)乙肝病毒, Measles virus(麻疹病
毒), cytomegalovirus(巨细胞病毒)
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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.
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The spectrum of different radiationinduced chromosome aberrations is informative about the geometry of chromosomes during interphase, and vice versa.
1956 ”
电 影 真 假 公 主

末代沙皇尼古拉二世的公主斯塔西娅
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安娜-安德森
10 人类染色体畸变 chromosome aberration
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Any type of change in the chromosome structure or number (deficiencies, duplications, translocations, inversions, etc.).
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