辐射诱导黑腹果蝇遗传隐性基因突变的性质

I. Alexandrov, M. Alexandrova, K. Afanasyeva
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摘要

对早期[1]和当前[2]关于遗传性发育异常和其他疾病的流行病学和遗传学数据的分析使我们注意到一个有趣而重要的事实,即在各种检测到的遗传变化中,点突变是现代人群中传播的近一半隐性孟德尔病[1]的基础。同时,分子分析结果表明,这些突变背后的DNA变化主要表现为碱基替换、索引、延伸缺失或插入和重复[3-5]。考虑到众所周知的重要事实,即对人类最危险的诱变剂是电离辐射,人类在地球上(核电站、放射治疗、中子研究、核灾难等)和外层空间日益受到电离辐射的影响。因此,重要的是要知道:(i)电离辐射是否在一般情况下诱导生殖细胞的点突变,(ii)如果是这样,稀疏和密集的电离辐射在诱导这种突变中的效率是多少,以及(iii)哪些DNA变化是这些突变的基础。
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The Nature of Radiation-induced Inherited Recessive Gene Mutations in Drosophila Melanogaster
Analysis of early [1] and current [2] data on epidemiology and genetics of inherited developmental anomalies and other disorders allows us to note an interesting and important fact that among the various detected genetic changes, point mutations underlie almost one-half of the recessive Mendelian diseases [1] circulating in modern human populations. At the same time, the results of molecular analysis showed that the DNA changes underlying these mutations are represented mainly by base substitutions, indels, extended deletions or insertions and duplications [3-5]. Taking into account the well-known and important fact that the most dangerous mutagen for human is ionizing radiation with which humans are increasingly exposed on Earth (nuclear power station, radiotherapy, neutron research, nuclear disaster etc.) and in outer space. Therefore, it is important to know: (i) does ionizing radiation induces point mutations in germ cells in general, (ii) if so, what is the efficiency of sparsely and densely ionizing radiation in induction of such mutations, and (iii) what DNA changes underlie these mutations.
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